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33F Skin patches 3
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McCune Albright
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13M Bone Age - ESRD 2
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1 year later 1
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Healing rickets distal ulna
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25M 1
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Osteopoikilosis Benign sclerosing bone dysplasia Melorrheostosis Osteopathiastriata
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35M Chronic illness 6
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ROD
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66F 3
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2
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Fibrous Dysplasia
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43F
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RTA-ROD
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29M
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POFD
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53M
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Renal Tx – ROD - AVN
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57F Bone pain 8
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Gauchers
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49M Bone pain
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Poly osstotic fibrous dysplasia
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25F
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4
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Primary oxalosis secondary 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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7M Kyphosis
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Mucolipidosis 3 - PseudoHurlers
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Newborn
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3mM Short
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32M Stiffness 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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29F Short stature 8
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Diastrophic dwarf 29F Short stature
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57M L hip pain 2
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Sandwich vertebrae - Osteopetrosis 57M L 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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67F Lump 2
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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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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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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 ages increasing 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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Absence of homogentisic acid oxidase Pigmentation Arthropathy Osteoporotic with dense disc calcification Larger joints show DJD
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6mM Calcareous nodules
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Idiopathic calcinosis universalis * Idiopathic calcinosis universalis
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Rare, unknown cause Infants - subcutaneous Children - spreads to muscles Calcium phosphate and carbonate Serum calcium and phosphorous normal DDx - DMS, HPT, Calcium gluconate
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50F Life long problems
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* OGI
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45M ITC
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23M Hemophilia
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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 Mastocytosis Histamine 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 Universalis Dermatomyositis
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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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28BF mass in shoulder
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Idiopathic Tumoral Calcinosis *
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Periarticular calcified masses Shoulder, hip, elbow B>W, M=F Recur if resected Elevated phosphate, normal calcium Renal tubular phosphate resorption
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63F ITC
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Rib osteochondroma
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Massive osteolysis
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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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Newborn FLK
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OGI
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Camurati Engelman
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Metaphyseal dysplasia
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