Transcript
Page 1: 33F Skin patches 3. 2 1 McCune Albright 13M Bone Age - ESRD 2

33FSkin patches

3

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33FSkin patches

2

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33FSkin patches

1

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33FSkin patches

• McCune Albright

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13MBone Age - ESRD

2

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13MBone Age - ESRD

1 year later

1

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• Healing rickets distal ulna

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25M

1

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25M

• Osteopoikilosis • Benign sclerosing bone dysplasia• Melorrheostosis• Osteopathiastriata

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35MChronic illness

6

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35MChronic illness

5

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35MChronic illness

4

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35MChronic illness

3

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35MChronic illness

2

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35MChronic illness

1

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35MChronic illness

• ROD

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66F

3

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66F

2

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66F

1

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66F

• Fibrous Dysplasia

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43F

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43F

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RTA-ROD

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29M

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29M

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29M

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POFD

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53M

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53M

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53M

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53M

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Renal Tx – ROD - AVN

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57FBone pain

8

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57FBone pain

7

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57FBone pain

6

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57FBone pain

5

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57FBone pain

4

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57FBone pain

3

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57FBone pain

2

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57FBone pain

1

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Gauchers

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49MBone pain

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49MBone pain

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Poly osstotic fibrous dysplasia

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25F

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25F

25F

4

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25F

25F

3

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25F

25F

2

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25F

25F

1

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Primary oxalosissecondary hyperparathyroidism

• Primary• Hereditary hyperoxaluria• AR, enzyme deficiency - carboligase• Diffuse calcium oxalate deposits

• Secondary• Disturbance of bile acid metabolism• Usually diseases of terminal ileum

25F

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Acroosteolysis

• Tuft• CVD, Psoriatic, Neuropathic, Thermal, Trauma, HPT,

Porphyria, Epidermolysis bullosa, Phenytoin toxicity, Subungal exostosis, Snake venom

• Middle• HPT, Hajdu Cheney, PVC

• Periarticular• Psoriatic, Erosive OA, HPT, Thermal injury, Scleroderma,

Multicetric reticulohistiocytosis

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20F

1

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Familial osteolysis

20F

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7MKyphosis

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Mucolipidosis 3 - PseudoHurlers

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Newborn

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Newborn

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Newborn

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3mMShort

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3mMShort

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32MStiffness and decreased ROM since child

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32MStiffness and decreased ROM since child

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Trevors disease

• Dysplasia epiphysialis hemimelica

32M Stiffness and decreased ROM since child

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29FShort stature

8

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29FShort stature

7

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29FShort stature

6

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29FShort stature

5

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29FShort stature

4

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29FShort stature

3

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29FShort stature

2

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29FShort stature

1

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Diastrophic dwarf

29F Short stature

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57ML hip pain

2

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Sandwich vertebrae - Osteopetrosis

57ML hip pain

1

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Osteopetrosis

• Marble bone, Defective osteoclasts

• AR, Infantile, Systemic, Leukaemia

• AD, Adult, Fxs, anaemia, CN palsy

• Sclerotic, peri and endosteal

• Erlenmyer flask

• Bone in bone, sandwich vertebrae

• Calvaria and mandible spared

57M L hip pain

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67FLump

2

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67FLump

1

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Fibrous Dysplasia

• Common

• Hamartomatous fibro-osseous metaplasia

• 70% monoostotic

• Polyostotic tends to be unilateral

• Usually expansile

• Shepherds crook, ground glass

• Any bone, but spine unusual

67F Lump

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Variable patients Same condition

6

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Variable patients Same condition

5

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Variable patients Same condition

4

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Variable patients Same condition

3

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Variable patients Same condition

2

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Variable patients Same condition

1

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Pseudohypoparathyroidism

• X-linked, renal and skeletal resistance to PTH

• Short, retarded,

• Decreased Ca, normal/increased PTH

• Brachydactyly 1,4,5 MC

• Ca basal ganglia, skin, SubQ

Variable patients Same condition

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Same condition Various patients

8

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Same condition Various patients

7

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Same condition Various patients

6

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Same condition Various patients

5

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Same condition Various patients

4

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Same condition Various patients

3

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Same condition Various patients

2

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Same condition Various patients

1

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Dermatomyositis

• Damaged chondroitin sulfate

• Atrophy, oedema, necrosis of muscle

• 30-60, F>M

• Calcification extremities and girdles

• Pointing of tufts

• Ass. Malignancy, lung, kidney, ovary, breast

Same condition Various patients

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37F acute torticollis, stiffness and shortness of breath

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*

Fibrodysplasia ossificans progressiva

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• MOP / Stone man

• Rare, AD, sporadic

• Presents in childhood

• Stiffness, Heterotopic ossification

• Malformed fingers and toes

• Bone morphogenic protein (BMP) signaling pathway problem

Fibrodysplasia ossificans progressiva

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Variable agesincreasing stiffness

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*

Fibrodysplasia ossificans progressiva

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• MOP / Stone man

• Rare, AD, sporadic

• Presents in childhood

• Stiffness, Heterotopic ossification

• Malformed fingers and toes

• Bone morphogenic protein (BMP) signaling pathway problem

Fibrodysplasia ossificans progressiva

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48M joint pains and dark pigmentation on ears

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Alkaptonuria

*

Alkaptonuria / Ochronosis

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Alkaptonuria / Ochronosis

• Absence of homogentisic acid oxidase

• Pigmentation

• Arthropathy

• Osteoporotic with dense disc calcification

• Larger joints show DJD

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6mMCalcareous nodules

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Idiopathic calcinosisuniversalis

*

Idiopathic calcinosisuniversalis

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50FLife long problems

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*

OGI

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OGI

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45MITC

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ITC

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ITC

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23M

Hemophilia

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Hemophilia

23M

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Mastocytosis

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65

Mastocytosis

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65

Mastocytosis

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65

Mastocytosis

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65

Mastocytosis

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65

Mastocytosis

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65 MastocytosisHistamine release causes lucency, bodies reaction causes sclerosis.

Mastocytosis

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Cherub - Fibrous Dysplasia

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16mF

Dysostosis multiplex

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4M

Morquio’s

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24F

NF1

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22F

Calcinosis Interstitialis UniversalisDermatomyositis

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McCune Albright

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9F

McCune Albright

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Polyostotic fibrous dysplasia

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24M

Polyostotic fibrous dysplasia

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Polyostotic fibrous dysplasia

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28BF mass in shoulder

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Idiopathic Tumoral Calcinosis

*

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63F

ITC

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ITC

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Rib osteochondroma

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Rib osteochondroma

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Rib osteochondroma

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Massive osteolysis

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Massive osteolysis

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Massive osteolysis

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Multiple hereditary exostoses

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Multiple hereditary exostoses

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Multiple hereditary exostosis

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Multiple hereditary exostoses

21mF

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Multiple hereditary exostoses

21mF

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Multiple hereditary exostoses

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NewbornFLK

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OGI

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Camurati Engelman

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Camurati Engelman

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Camurati Engelman

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Metaphyseal dysplasia

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Metaphyseal dysplasia

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Metaphyseal dysplasia


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