33FSkin patches

3

33FSkin patches

2

33FSkin patches

1

33FSkin patches

• McCune Albright

13MBone Age - ESRD

2

13MBone Age - ESRD

1 year later

1

• Healing rickets distal ulna

25M

1

25M

• Osteopoikilosis • Benign sclerosing bone dysplasia• Melorrheostosis• Osteopathiastriata

35MChronic illness

6

35MChronic illness

5

35MChronic illness

4

35MChronic illness

3

35MChronic illness

2

35MChronic illness

1

35MChronic illness

• ROD

66F

3

66F

2

66F

1

66F

• Fibrous Dysplasia

43F

43F

RTA-ROD

29M

29M

29M

POFD

53M

53M

53M

53M

Renal Tx – ROD - AVN

57FBone pain

8

57FBone pain

7

57FBone pain

6

57FBone pain

5

57FBone pain

4

57FBone pain

3

57FBone pain

2

57FBone pain

1

Gauchers

49MBone pain

49MBone pain

Poly osstotic fibrous dysplasia

25F

25F

25F

4

25F

25F

3

25F

25F

2

25F

25F

1

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

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

20F

1

Familial osteolysis

20F

7MKyphosis

Mucolipidosis 3 - PseudoHurlers

Newborn

Newborn

Newborn

3mMShort

3mMShort

32MStiffness and decreased ROM since child

32MStiffness and decreased ROM since child

Trevors disease

• Dysplasia epiphysialis hemimelica

32M Stiffness and decreased ROM since child

29FShort stature

8

29FShort stature

7

29FShort stature

6

29FShort stature

5

29FShort stature

4

29FShort stature

3

29FShort stature

2

29FShort stature

1

Diastrophic dwarf

29F Short stature

57ML hip pain

2

Sandwich vertebrae - Osteopetrosis

57ML hip pain

1

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

67FLump

2

67FLump

1

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

Variable patients Same condition

6

Variable patients Same condition

5

Variable patients Same condition

4

Variable patients Same condition

3

Variable patients Same condition

2

Variable patients Same condition

1

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

Same condition Various patients

8

Same condition Various patients

7

Same condition Various patients

6

Same condition Various patients

5

Same condition Various patients

4

Same condition Various patients

3

Same condition Various patients

2

Same condition Various patients

1

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

37F acute torticollis, stiffness and shortness of breath

*

Fibrodysplasia ossificans progressiva

• 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

Variable agesincreasing stiffness

*

Fibrodysplasia ossificans progressiva

• 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

48M joint pains and dark pigmentation on ears

Alkaptonuria

*

Alkaptonuria / Ochronosis

Alkaptonuria / Ochronosis

• Absence of homogentisic acid oxidase

• Pigmentation

• Arthropathy

• Osteoporotic with dense disc calcification

• Larger joints show DJD

6mMCalcareous nodules

Idiopathic calcinosisuniversalis

*

Idiopathic calcinosisuniversalis

50FLife long problems

*

OGI

OGI

45MITC

ITC

ITC

23M

Hemophilia

Hemophilia

23M

Mastocytosis

65

Mastocytosis

65

Mastocytosis

65

Mastocytosis

65

Mastocytosis

65

Mastocytosis

65 MastocytosisHistamine release causes lucency, bodies reaction causes sclerosis.

Mastocytosis

Cherub - Fibrous Dysplasia

16mF

Dysostosis multiplex

4M

Morquio’s

24F

NF1

22F

Calcinosis Interstitialis UniversalisDermatomyositis

McCune Albright

9F

McCune Albright

Polyostotic fibrous dysplasia

24M

Polyostotic fibrous dysplasia

Polyostotic fibrous dysplasia

28BF mass in shoulder

Idiopathic Tumoral Calcinosis

*

63F

ITC

ITC

Rib osteochondroma

Rib osteochondroma

Rib osteochondroma

Massive osteolysis

Massive osteolysis

Massive osteolysis

Multiple hereditary exostoses

Multiple hereditary exostoses

Multiple hereditary exostosis

Multiple hereditary exostoses

21mF

Multiple hereditary exostoses

21mF

Multiple hereditary exostoses

NewbornFLK

OGI

Camurati Engelman

Camurati Engelman

Camurati Engelman

Metaphyseal dysplasia

Metaphyseal dysplasia

Metaphyseal dysplasia