Hereditary multiple exostoses with Madelung deformity

Case contributed by Mohamed Salah Ayyad
Diagnosis almost certain

Presentation

Pain around the knee and the wrist.

Patient Data

Age: 40 years
Gender: Female

The plain radiograph of the knee shows multiple bony projections originating from the distal end of the femoral shaft and the proximal tibia and fibula. They are seen projecting away from the joint space. They show continuity with the cortex of the mother bone. No associated cortical destruction, or extra-osseous soft tissue masses. This matches the diagnosis of multiple osteochondromas (exostoses). Another plain radiograph of the forearm shows radial bowing of the radius, exaggerated inter-osseous distance, V-shaped proximal row of carpal bones, and decreased carpal angle. This denotes associated Madelung deformity.

Case Discussion

Hereditary multiple exostoses is an autosomal dominant condition characterized by the development of multiple osteochondromas. Osteochondromas are benign bony outgrowths that may be either pedunculated or sessile. They continue growing till the skeletal maturity is reached. The continuous growth of the osteochondroma following the closure of the epiphysis should raise the suspicion of malignant transformation into low-grade chondrosarcoma which occurs in up to 5% of patients. Most patients will present with pain or compression manifestations of the bony outgrowths on the surrounding vessels and nerves. Associated skeletal deformities such as Madelung deformity may occur due to disturbed bone growth.

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