Hereditary multicentric osteolysis

Case contributed by Sophie Gregory
Diagnosis almost certain

Presentation

Chronic intermittent right hand pain.

Patient Data

Age: 30 years
Gender: Male

X-rays of Rt & Lt forearms...

x-ray

X-rays of Rt & Lt forearms for comparison

There is congenital deformity of the forearm with dislocation of the elbow
joint, absent carpal bones, dysmorphic bony structures including the ulna and radius, hypoplastic metacarpal bones and ankylosis of some of the interphalangeal joints.

Case Discussion

X-ray findings supportive of the patient's known diagnosis of hereditary multicentric osteolysis, a syndrome characterized by osteolysis of carpal and tarsal bones and often associated with nephropathy leading to renal failure and eventually requiring transplantation, as was the case in this patient.

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