Download - Diseases of Bone
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DISEASES OF BONE
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Osteogenesis imperfectaOsteopetrosisCleidocranial dysplasia
Fibrous dysplasiaPagets disease CherubismGardners Syndrome
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OSTEOGENESIS IMPERFECTA
Osteogenesis Imperfecta must be considered as adifferential diagnosis in a child having multiplerepeated fractures
Heterogeneous group of heritable disorderscharacterized by impairment of collagen maturation
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Abnormal collagenous maturation results in bonewith a thin cortex, fine trabeculation, and diffuseosteoporosis
Upon fracture, healing will occur but may beassociated with exuberant callus formation
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O THER NAMES
Brittle bonesFragilitas OssiumOsteopsathyrosis
Lobsteins disease
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C LINICAL AND R ADIOGRAPHIC FEATURES
Affects 1 in 8000 individuals, with many beingstillborn or dying shortly after birthBoth AD & AR occur
Bone fragility, blue sclera , altered teeth, hypoacusis(hearing loss), long bone and spine deformities,and joint hyperextensibilityRadiographic hallmarks : osteopenia, bowing,angulation or deformity of the long bones, multiplefractures, and wormian bones ( Also seen incleidocranial dysplasia)
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C LINICAL AND R ADIOGRAPHIC FEATURES
Oral findings:identical to dentinogenesis imperfecta ,both dentitions are involveddemonstrate blue to brown translucenceRadiographs typically reveal premature pulpalobliteration,
Although shell teeth rarely maybe seenSuch dental defects in association with the systemicbone disease should be termed opalescent teeth,reserving the diagnosis of dentinogenesis imperfecta for those patients with alterations isolated to the teethIncreased prevalence of class I II m alocclu s ion that iscaused by m axi llary hy pop las ia , with or withoutmandibular hyperplasia
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Large number of impactionsUnerupted first and second permanent molars
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OSTEOPETROSIS
ALBERS-SCHONBERG DISEASE;MARBLE BONE DISEASE
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Consequently primary spongiosa (calcifiedcartilage deposited during endochondralbone formation) persists and serves ashistopathologic marker for these disorders
RG: Erlenmeyer flask deformity
Alternating dense Ro and RL bands
Rugger jersey vertebrae
Bone in bone: endobone
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L AB FINDINGS :
Hypocalcemia can occur and may be severeenough to cause rachitic changes in growth plates.Secondary hyperparathyroidism
Acid phosphatase (ACP) activity raised in serumBiochemical marker: brain isoenzyme of creatinekinase (BB-CK) in serum
ACP and BB-CK : originate from osteoclasts
Immunoreactive PTH levels in serum are elevated
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Osteopetrosis with neuronal storage disease(accumulation of ceroid lipofuscin) may involve a defectcentered in the lysosomesVirus like inclusions have been found in theosteoclasts of a few sporadic cases of benignosteopetrosisSynthesis of abnormal PTHDefective production of IL-2 or superoxide: factorsnecessary for bone resorption
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Abnormality in circulating monocytes andgranulocytesImpaired bone resorption causes skeletalfragility because fewer collagen fibrils properlyconnect osteons, and there is defectiveremodeling of woven bone to compact bone
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There is reduced Ca/P ratio in both enamel anddentin that may alter OH-App crystal formation andcontribute to increased caries index
SCHEUTHAUER
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SCHEUTHAUER-MARIESAINTON
SYNDROMECLEIDOCRANIAL
DYSPLASIA
Delayed ossification of skull,excessively large fontanelles, delayedclosure of suturesBrachycephalic skull
Saggital suture ~ sunken, flatappearance to skull
Bossing of frontal, parietal & occipitalregions give skull a large globular
shape ~ Arnold Head
Clavicular hypoplasia or agenesis , ~approximation of shoulders in front of chest
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Etiology
Familial, autosomal dominantTranslocation- chrom. 8(8q22) & long arm of chrom. 6Mutations in core binding factoralpha-l ( CBFA1) gene , locatedon chrom 6p21
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Oral manifestations
High, narrow, arched palate,actual cleft palate
Maxilla underdeveloped & smaller than mandible
Prolonged retention of deciduous teeth & subsequentdelay in eruption of
succedaneous teeth
Roots of teeth ~ shorter & thinner than usual, absence of cellular cementum
Supernumerary teeth
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FIBROUS DYSPLASIA
Skeletal developmental anomaly of the bone-forming mesenchyme that manifests
as a defect in osteoblastic differentiationand maturation
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Etiology :
Mutation in GNAS I, a-stimulating activity polypeptide I gene ~ encodes Gs-alpha subunit> cAMP to hormone receptors
GTPase perturbations > prolonged Gs alphaactivation & stimulation of endocrine receptors
Elevated intracellular cAMP in bone marrow
osteoprogenitor cells > cell proliferation withdifferentiation defects
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Mutation Undiff. stem cells~ early embryologic lifeOsteoblasts, melanocytes, & endocrine cells ~ carry mutation
C/Fs ~ multiple bone lesions, cut. pigmentation & endcrn. disturbances
Skeletal progenitor cells ~ later stages
skeleton resulting in multiple bone lesions of FD
Mutation ~ post natal life,
Confined to one site, resulting in FD affecting single bone
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C LINICAL AND R ADIOGRAPHIC F EATURES :
Monostotic FD of jaws :
Disease limited to single bone80% to 85% of all cases,
Jaws ~ most commonLate 1 st & early 2 nd decades
No gender/racial predilectionSlow growing painless osseousexpansion with facial asymmetry
Maxilla > mandibleTeeth involved ~ firm but may bedisplaced by bony mass
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R/F ~ vary
Early onset ~ R/L & later calcify >
ground glass or mottled mixedR/L / R/O pattern
Critical to diagnosis ~ fails tomanifest any discrete margins
Mandibular involv. ~ expansion of lingual & buccal plates, bulging of lower border
Narrowing ~ Pdl space , ill-defined lamina dura Maxilla: lesion displaces sinus
floor superiorly, obliterates sinus
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Craniofacial FD
2 or more bones, few to 75 % of entire skeleton 20-30 % of cases Pain, hockey stick deformity, pathologic fracture With cafe au lait pigmentation ~ Jaffe-Lichtenstein syndrome With cafe au lait pigmentation & multiple endocrinopathies ~
McCune-Albright syndrome
Cafe au lait: well-defined, unilateral tan macules,
trunk & thighs
Oral mucosal macules ~ marginsirregular, resembling a map of coastline of Maine
(neurofibromatosis has smooth borders like coast of California )
Polyostotic fibrous dysplasia
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H ISTOPATHOLOGIC F EATURES
Irregularly shaped trabeculae
of immature (woven) bone incellular, loosely arrangedfibrous stroma
Trabeculae ~ not connected,curvilinear shapes ~
Chinese script writing, considered to arise bymetaplasia & not surrounded
by plump appositionedosteoblasts
No capsule or line of demarcation
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LABORATORY F INDINGS
No consistent significant changes in serum calcium or phosphorus
Alkaline serum phosphatase level is sometimes elevated
Premature secretion of pituitary follicle stimulating hormone reported
Moderately elevated basal metabolic rate
TREATMENT AND P ROGNOSIS
Surgical resection in their entirety
25% & 50% pt.s ~ regrowth after surgical shave downOsteosarcoma ~ rarely associated with FD
Radiation therapy for FD is contraindicated because itcarries risk for development of post irradiation bonesarcoma
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OSTEITIS DEFORMANS/P AGET DISEASE OF BONE
Disease characterised by excessive and abnormal remodelling of bone ,
is a common disorder in middle aged & elderly
Etiology: .
Defective function of the osteoprotegerin/ TNFRSF11A orB/RANKL/RANK pathway , a molecular regulator of osteoclastogenesisMutations in SQSTM1 (p62), sequestosome gene that encodes a scaffold
protein
NFKappaB signaling pathway mutations
o Phases
Lytic
Mixed lytic and blastic
Sclerotic or burned out
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C LINICAL AND R ADIOGRAPHIC F EATURES :
Late adult onset
M ~ F
Most ~ British Isles & New Zealand , > 1% of the population,
less common in Italy, other European countries & US
Rapid turnover of bone ~ osseous expansion, skeletal deformities
Tubular bones ~ bowing, spinal curvature ~ vertebral collapse in later stages
All bones of craniofacial complex ~ affected to varying degrees
Cranial nerve neuropathies because of foramina narrowing ~ deafness
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O RAL MANIFESTATIONS
Maxilla > Mandible, 2.3:1,alv. Ridge ~ widened,Palate ~ flattened
Teeth ~ loose, migrate, spacingProminent dental finding ~ hypercementosis , on PM &M teethMouth remains open
Edentulous pt.s ~ appliances remade
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In early stages of disease,radiolucent coin shapedlesions appear in flat bones of skull ~ osteitis circumscripta
With progression, sclerosis isseen radiographically yielding
the so-called cotton wool appearance
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Bone scintigraphy : bone scan may demonstratemarked uptake throughout the entire mandible fromcondyle to condyle, a feature that has been termedLincoln's sign
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H ISTOPATHOLOGIC F EATURES
Initial osteolytic phase ~disordered areas of resorption, osteoclasticresorptive lacunae
Osteoblastic phase ~haphazard woven bone
Resting & reversal lines
Mosaic patternJigsaw puzzle
Marrow spaces ~ loosevascularised tissue
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LABORATORY F INDINGS
Serum calcium and phosphorus levels ~ within normal limits
Serum alkaline phosphatase level ~ elevatedValues 250 Bodansky units ~ osteoblastic phase, polyostotic
Upto 50 Bodansky units ~ monostoticSerum acid phosphatase levels not increasedUrinary hydroxyproline levels ~ elevated,
N- telopeptide, alpha C telopeptide
TREATMENT AND P ROGNOSIS
No specific treatment
Calcitonin, parathormone antagonist which suppresses bone resorptionComplications ~ pathological fractures,
dvlpmnt of osteosarcoma
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CHERUBISM
rare hereditary non-neoplastic bone diseasecharacterized by clinically evidentbilateral, painless enlargements of the jaws thatare said to give the patient a cherubicappearance.
fullness of the cheeks and retraction of the lower eyelids giving an upward turned appearance of the eyes comparable to a cherub angel
Also called : "familial fibrous dysplasia"
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ORAL MANIFESTATIONS
Absence of teeth,impacted or displaced teeth andRoot resorption.
These anomalies are caused by the substitution of bone into a fibrous tissue
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RADIOGRAPHIC FEATURES
multilocular, expansile RL
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H ISTOPATHOLOGIC F EATURES :
Similar to giant cell granulomasVascular fibrous tissue containing variable numbersof multinucleated giant cellsStroma: more loosely arranged than that seen ingiant cell granulomasSome cases reveals eosinophilic, cuff likedeposits surrounding small blood vesselsthroughout the lesion.
In older, resolving lesions of cherubism, the tissuebecomes more fibrous, the number of giant cellsdecreases, and new bone formation is seen.
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TREATMENT
self-limiting lesion and spontaneously regresseswith age.
Some authors point medical therapy in the form of calcitonin
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G ARDNER S YNDROME
Rare autosomal dominant disease characterized by
GI po lyps ,
Mult iple os teom as, and so f t t i s sue tum ors
Etiology:Genetic
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C LINICAL F EATURES :
onset early pubertypolyps of the colon ultimately change intoadenocarcinoma by the fourth decade of life.congenitally missing teeth, hypercementosis,
odontomas, dentigerous cysts, impacted teeth,supernumerary teeth, fused or unusually longroots, and multiple caries.osteomas most often develop first within the angle
of the mandible Abnormality of the retina of the eyeDevelopment of multiple epidermal cysts usuallyon face, scalp, and extremities
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R ADIOGRAPHIC F EATURES :
Usually impacted supernumerary teeth
osteomas in the mandible or paranasal sinuses;well delineated or spherical calcifications
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TREATMENT :
Colonectomy is recommended if 30 or morepolyps are detectedCutaneous findings do not require treatment.Genetic counsellingOsteomas may require excision if severelydeforming or interfering with function
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P ROGNOSIS :
Polyps have a risk of undergoing malignanttransformation