The condition constitutes an uncommon benign fibro-osseous lesion that results in progressive painless symmetrical expansion of the jaws with a predilection for the mandible and sometimes the maxilla resulting in a cherubic facial appearance

These growths give the cheeks a swollen rounded appearance to resemble a lsquocherubrsquo and often interfere with normal tooth development

In some people the condition is so mild that it may not be noticeable while

other cases are severe enough to cause problems with vision breathing speech and swallowing

Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty

The abnormal growths are gradually replaced with normal bone in early adulthood As a result many affected adults have a normal facial appearance

EtiopathogenesisMutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism

In most of the remaining cases the genetic cause of the condition is unknown

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear The protein plays a role as transcription factors within cells particularly cells involved in bone remodeling and certain immune system cells

Mutation of the gene encoding for fibroblast growth factor receptor III (FGF-RIII) has also been found in some cases of cherubism

The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts

This condition is inherited in an autosomal dominant pattern

Clinical featuresAge The age of onset of the symptoms is between 6 years and 10 years And growth subsides as patient reaches puberty

Sex MgtF

Site Maxillary and mandibular bone

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

These growths give the cheeks a swollen rounded appearance to resemble a lsquocherubrsquo and often interfere with normal tooth development

In some people the condition is so mild that it may not be noticeable while

other cases are severe enough to cause problems with vision breathing speech and swallowing

Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty

The abnormal growths are gradually replaced with normal bone in early adulthood As a result many affected adults have a normal facial appearance

EtiopathogenesisMutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism

In most of the remaining cases the genetic cause of the condition is unknown

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear The protein plays a role as transcription factors within cells particularly cells involved in bone remodeling and certain immune system cells

Mutation of the gene encoding for fibroblast growth factor receptor III (FGF-RIII) has also been found in some cases of cherubism

The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts

This condition is inherited in an autosomal dominant pattern

Clinical featuresAge The age of onset of the symptoms is between 6 years and 10 years And growth subsides as patient reaches puberty

Sex MgtF

Site Maxillary and mandibular bone

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

EtiopathogenesisMutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism

In most of the remaining cases the genetic cause of the condition is unknown

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear The protein plays a role as transcription factors within cells particularly cells involved in bone remodeling and certain immune system cells

Mutation of the gene encoding for fibroblast growth factor receptor III (FGF-RIII) has also been found in some cases of cherubism

The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts

This condition is inherited in an autosomal dominant pattern

Clinical featuresAge The age of onset of the symptoms is between 6 years and 10 years And growth subsides as patient reaches puberty

Sex MgtF

Site Maxillary and mandibular bone

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Mutation of the gene encoding for fibroblast growth factor receptor III (FGF-RIII) has also been found in some cases of cherubism

The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts

This condition is inherited in an autosomal dominant pattern

Clinical featuresAge The age of onset of the symptoms is between 6 years and 10 years And growth subsides as patient reaches puberty

Sex MgtF

Site Maxillary and mandibular bone

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts

This condition is inherited in an autosomal dominant pattern

Clinical featuresAge The age of onset of the symptoms is between 6 years and 10 years And growth subsides as patient reaches puberty

Sex MgtF

Site Maxillary and mandibular bone

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Clinical featuresAge The age of onset of the symptoms is between 6 years and 10 years And growth subsides as patient reaches puberty

Sex MgtF

Site Maxillary and mandibular bone

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

The abnormal bone formation causes delayed permanent tooth eruption

The teeth in the affected regions may be loose and tooth eruption delayed Premature primary teeth loss and noneruption of permanent teeth due to the cysts and other lesions are the manifestations

Absence of 2nd and 3rd mandibular molar

Maxillary arch has a lsquovrsquo shaped appearance

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Clinical featuresjaw fullness due to the bilateral expansile masses with symmetric involvement of mandible and maxilla

slight upward turning of eyes called as lsquoheavenward turning of the eyesrsquo

Additionally submandibular lymph node enlargement may also be present

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Grading system for cherubismArnott proposed a grading system for cherubismaccording to lesion location and the degree of expansionAccordingly grade 1 cases are limited to both ascending rami of the mandible grade 2 cases involvethe maxillary tuberosities and mandibular ascending rami (resulting in congenital absence of the third and occasionally the second molars) and grade 3 casescorrespond to massive involvement of both jaws except the coronoidprocesses and condyles resulting in considerable facial disfigurementRamon and Engelberg added grade 4 in application to cases where all

of the classical features of the disorder exceeding grade 3 are present The grade may change depending on findings at follow-up examination

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

X-rayAll patients exhibited symmetrical multiloculartransparencies in the mandibular rami and angles

Floating tooth syndrome

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

HistopathologyMicroscopy shows a highly vascular fibrous stroma with unevenly distributed osteoclastic-like multinucleated giant cells that tend to cluster near hemorrhagic foci and deposits of hemosiderin

Vascular channels are well formed and lined by large endothelial cells

The presence of eosinophilic collagenous material around small capillaries is of value in the diagnosis of cherubismand is called as the Eosinophilic vascular cuffing

Mature lesions exhibit more dense fibrous tissue while the number of multinucleated giant cells decreases

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

DDGiant cell granuloma

Brown tumor of hyperparathyroidism

Bone changes in hyperparathyroidism rarely cause unilateral jaw lesions but do produce abnormal serum calcium and phosphorus levels

In cherubism eosinophilic collagen cuffing can be observed and is pathognomonic for the lesion

Aneurysmal bone cyst

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

TreatmentBecause cherubism is considered to be a self-limiting condition that improves over time treatment depends on the individual patientrsquos functional and esthetic needs

Most investigators prefer to wait until the end of puberty before performing surgery

Early surgical intervention is contraindicated because it appears to predispose to recurrences

Surgery is only indicated in cases characterized by impaired speech chewing or swallowing difficulties or with the presence of major deformities that may cause psychological problems for the patient

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Paget disease of the bone (also known as osteitisdeformans) is a chronic bone disorder characterized by excessive abnormal bone remodeling

It was first described by Sir James Paget in 1877

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

EtiologyBoth genetic and environmental factors are thought to play a role

About 15 of people with Pagets disease have a family history

Autosomal dominant inheritance has also been described in some families

Mutations have been identified in four genes that cause Pagets disease of which sequestosome 1 (SQSTM1) mutation is the most important

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

The mechanisms underlying the focal nature of the disease are unclear

Mechanical stress may play a role

Paramyxovirus infection (including measles and respiratory syncytial virus) has been suggested as a possible trigger but this has been disputed

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Clinical featuresAge Above 55 yrs of age

Sex MgtF=32

Site Pagets disease can affect any bone but is most common in the axial skeleton long bones and the skull The usual sites are the pelvis lumbar spine femur skull and tibia The hands and feet are rarely affected

Pagets disease is very rare in Asian countries

It is monostotic (affecting one bone) in a third of cases and polyostotic (affecting two or more bones) in the remaining two thirds

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Symptomslocalised pain and tenderness Pain may be present at rest at night and on movement but does not tend to be focused around a joint

increased focal temperature due to hyperaemia (due to hypervascularity)

increased bone size historically changing hat size was a give-away

bowing deformities

kyphosis of the spine

decreased range of motion

signs and symptoms relating to complications

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

Stages in pagetrsquos diseaselytic (incipient active) predominated by osteoclasticactivity

mixed (active) osteoblastic as well as osteoclasticactivity

scleroticblastic (late inactive)

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

X rayosteoporosis circumscripta large well defined lyticlesion

cotton wool appearance mixed lytic and sclerotic lesions of skull

diploic widening both inner and outer calvarial tables are involved

Long bones show blade of grass or candle flame sign begins as a subchondral area of lucency with advancing tip of V shaped osteolysis extending towards the diaphysis

There is a lytic phase to the disease process with an increase in bone resorption and abnormal osteoclastactivity This leads to a rapid increase in bone formation by osteoblasts In the sclerotic phase the focus is on bone formation

The structure of this new bone is disorganised and it is mechanically weaker more bulky less compact more vascular and liable to pathological fracture and deformity

Complicationsneural compression may result in

deafness is the most common complication

cranial nerve paresis may occur

basilar invagination may occur in advanced cases with hydrocephalus orbrainstem compression

secondary development of tumours like osteosarcomas

Complicationsneural compression may result in

deafness is the most common complication

cranial nerve paresis may occur

basilar invagination may occur in advanced cases with hydrocephalus orbrainstem compression

secondary development of tumours like osteosarcomas

Histopathologywoven bone and irregular broad trabeculae with disorganized cement lines in a mosaic pattern

profound bone resorption - numerous large osteoclasts with multiple nuclei per cell

virus-like inclusion bodies in osteoclasts

Pagets osteoclasts larger more nuclei than typical osteoclasts

fibrous vascular tissue interspersed between trabeculae

Lab diagnosisserum alkaline phopatase (ALP) elevated

urine hydroxyproline increased

Serum calcium phosphorus and parathyroid hormone levels are usually normal but immobilisationmay lead to hypercalcaemia

Urinary excretion of deoxypyridinoline and N-telopeptide are elevated

TreatmentThe objectives of treatment are control of pain and to reduce or prevent disease progression and complications

Non-steroidal anti-inflammatory drugs (NSAIDs) and paracetamol may be effective for pain

Anti-resorptive therapy is with either bisphosphonates or calcitonin (now rarely used)

Any calcium and vitamin D deficiency needs to be corrected before starting a bisphosphonate to avoid hypocalcaemia

Osteonecrosis of the jaw has been reported in patients taking bisphosphonates for Pagets disease

Cleidocranial dysostosisCleidocranial dysplasia primarily affects the development of the bones and teeth

Signs and symptoms of cleidocranial dysplasia can vary widely in severity even within the same family

Pathogenesiscaused by defect in intramembranous ossification

leads to failure of formation of midline structures

characteristic feature is hypoplastic or absent clavicles

autosomal dominant

RUNX2CBFA1 mutation

transcription factor which regulates osteoblasticdifferentiation

Clinical featuresproportionate dwarfism

clavicle dysplasiaaplasia

wormian or sutural bones

frontal bossing

delayed fontanel ossificationdue to delay in closure of skull sutures

shortened middle phalanges of 3-5 fingers

delayed ossification of pubis

dental abnormalitiesdelayed eruption of permanent teeth

Physical exam

hypermobility of the shoulders

abnormal range of motion at hips

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

TreatmentThe objectives of treatment are control of pain and to reduce or prevent disease progression and complications

Non-steroidal anti-inflammatory drugs (NSAIDs) and paracetamol may be effective for pain

Anti-resorptive therapy is with either bisphosphonates or calcitonin (now rarely used)

Any calcium and vitamin D deficiency needs to be corrected before starting a bisphosphonate to avoid hypocalcaemia

Osteonecrosis of the jaw has been reported in patients taking bisphosphonates for Pagets disease

Cleidocranial dysostosisCleidocranial dysplasia primarily affects the development of the bones and teeth

Signs and symptoms of cleidocranial dysplasia can vary widely in severity even within the same family

Pathogenesiscaused by defect in intramembranous ossification

leads to failure of formation of midline structures

characteristic feature is hypoplastic or absent clavicles

autosomal dominant

RUNX2CBFA1 mutation

transcription factor which regulates osteoblasticdifferentiation

Clinical featuresproportionate dwarfism

clavicle dysplasiaaplasia

wormian or sutural bones

frontal bossing

delayed fontanel ossificationdue to delay in closure of skull sutures

shortened middle phalanges of 3-5 fingers

delayed ossification of pubis

dental abnormalitiesdelayed eruption of permanent teeth

Physical exam

hypermobility of the shoulders

abnormal range of motion at hips

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Cleidocranial dysostosisCleidocranial dysplasia primarily affects the development of the bones and teeth

Signs and symptoms of cleidocranial dysplasia can vary widely in severity even within the same family

Pathogenesiscaused by defect in intramembranous ossification

leads to failure of formation of midline structures

characteristic feature is hypoplastic or absent clavicles

autosomal dominant

RUNX2CBFA1 mutation

transcription factor which regulates osteoblasticdifferentiation

Clinical featuresproportionate dwarfism

clavicle dysplasiaaplasia

wormian or sutural bones

frontal bossing

delayed fontanel ossificationdue to delay in closure of skull sutures

shortened middle phalanges of 3-5 fingers

delayed ossification of pubis

dental abnormalitiesdelayed eruption of permanent teeth

Physical exam

hypermobility of the shoulders

abnormal range of motion at hips

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Pathogenesiscaused by defect in intramembranous ossification

leads to failure of formation of midline structures

characteristic feature is hypoplastic or absent clavicles

autosomal dominant

RUNX2CBFA1 mutation

transcription factor which regulates osteoblasticdifferentiation

Clinical featuresproportionate dwarfism

clavicle dysplasiaaplasia

wormian or sutural bones

frontal bossing

delayed fontanel ossificationdue to delay in closure of skull sutures

shortened middle phalanges of 3-5 fingers

delayed ossification of pubis

dental abnormalitiesdelayed eruption of permanent teeth

Physical exam

hypermobility of the shoulders

abnormal range of motion at hips

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Clinical featuresproportionate dwarfism

clavicle dysplasiaaplasia

wormian or sutural bones

frontal bossing

delayed fontanel ossificationdue to delay in closure of skull sutures

shortened middle phalanges of 3-5 fingers

delayed ossification of pubis

dental abnormalitiesdelayed eruption of permanent teeth

Physical exam

hypermobility of the shoulders

abnormal range of motion at hips

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Physical exam

hypermobility of the shoulders

abnormal range of motion at hips

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

X-rayAP chest

clavicular dysmorphism

lateral skull

delayed closure of sutures

AP pelvis

coxa vara

failure of pubis to ossify

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

SymptomsSymptoms

usually asymptomatic

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

TreatmentSurgery if condition interferes with normal functioning

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Fibrous dysplasia shows a tumor-like proliferation of fibro-osseous tissue

The cause of fibrous dysplasia is unknown It may either present as monostotic affecting one bone or polyostotic affecting many bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

The tissue in the tumor is immature woven bone that cannot differentiate into mature lamellar bone

Mutation in the GNAS 1 (guanine nucleotide binding protein alfa stimulating activity polypeptide) gene playing a role in osteoblastic and osteoclasticdifferentiation This results in increased cAMP in all the affected tissues Endocrine glands produces a rapid implementation of secondary sexual characteristics

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

This is a somatic mutation rather than in the germline

It results from a defect is somatic mutation in the gene coding for alpha subunit of Gs the G protein that stimulates cAMP formation

- overproduction of cAMP causes overexpressionof c-fos which regulates proliferation and differentiation of osteoblasts and osteoclasts

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

The abnormality is limited to the tissues within the lesions

The cells have increased number of hormone receptors which may explain why these lesions become more active during pregnancy

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Clinical featuresAge lt30 years of age

Sex M=F

Site Monostotic single bone

Polyostotic multiple bones especially long bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Clinical featuresAlso polystotic fibrous dysplasia is known to have multiple associations with other disorders The combination of polyostotic fibrous dysplasia precocious puberty and cafe au lait spots is called Albrights syndrome

The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabrauds syndrome

Other endocrine abnormalities including hyperthyroidism Cushings disease thyromegaly hypophosphatemia and hyperprolactinemia have been associated with fibrous dysplasia

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Monostotic fibrous dysplasia may be completely asymptomatic and is often an incidental finding on x-ray

Pain and swelling at the site of the lesion can also be present

Unfortunately this tumor can also present as a pathological fracture that is followed by a nonunion or malunion

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Classificationmonostotic single bone

polyostotic multiple bones

craniofacial fibrous dysplasia skull and facial bones alone

cherubism mandible and maxilla alone (not true fibrous dysplasia)

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

MonostoticThis is by far the most common and accounts for 70-80 of cases

It is usually asymptomatic until 2nd-3rd decade but can be seen throughout adulthood 10-70 yrs of age

FgtM

After puberty the disease becomes inactive and monostotic form does not progress to polyostotic form

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Pain and swelling of the jaws

Rarely seen in oral cavity

But if present in maxilla there is maxillary swelling which produces the bulging of the canine fossa to extend right upto the tuberosity This appearance of the face is called as lsquoleontiasis ossearsquo Expansion is more on the buccal than the lingual side In case of the mandible the lower border is protruberant

Cortical plate is intact and so is the covering mucosa

Malalignment of teeth

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

XrayUnilocular or multilocular It has a thick margin called as the lsquorindrsquo sign

Mottled appearance

Ground glass or lsquopeau d orangersquo

But the cortical plate is never perforated

Teeth may flared out and only sometimes is there a resorption

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Shepherd crook deformity

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

PolyostoticIn the remaining 20-30 of cases multiple bones are involved

This presents earlier typically in childhood (mean age of 8 years) with 23rds that become symptomatic by the age 10

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Endocrinal changes

Precocious puberty

Bone manifestations

Cafeacute au lait spots May occur at birth and precede skeletal development Jaffersquos type

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Histopathologyirregular foci of woven bone arising from a cellular fibrous stroma

The stroma has a whorled appearance and

is highly vascular

The short irregular bone segments or trabeculae are not rimmed by osteoblasts

These irregular trabeculae have been described as Chinese letters or alphabet soup

No lamellar bone is found within a fibrous dysplasia lesion

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

Lab diagnosisIncreased alkaline phosphatase

Premature secretion of FSH

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

DDOssifying fibroma

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones

TreatmentPainful long bone lesions can be stabilized by cortical grafting or implant fixation

Curettage and bone grafting alone is best suited to lesions in non-weight bearing bones