Hereditary multiple exostoses

Case contributed by Marta Mazuque Mancilla
Diagnosis almost certain

Presentation

Deformities in wrists and knees.

Patient Data

Age: 12 years
Gender: Female
x-ray

Deformity of the distal metaphyses of the radius and ulna of both wrists with multiple exostoses. Severe disruption of the distal epiphysis of the right ulna. 

Exostoses are associated with generalized metaphyseal widening.

Findings are suggestive of multiple hereditary osteochondromatosis.

x-ray

Multiple exostosis from the distal femur and proximal tibia metaphyses are also seen.

Case Discussion

Hereditary multiple exostosis is a rare genetic disorder (autosomal dominant) characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones as well as from flat bones 1.

The most affected bones include the distal femur, proximal tibia, wrist, humerus, and pelvis.

The risk for malignant degeneration is more common than in sporadic cases, although the lifetime risk is low 2.

Clinical complications caused by osteochondromas are due to skeletal deformity, as they cause malalignment and restricted motion of joints, as well as secondary degenerative joint changes, chronic pain, and nerve impingement 3.

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