Hereditary multiple exostoses

Case contributed by Mario Javier Ordoñez Franco
Diagnosis certain

Presentation

Multiple palpable masses in upper limbs and pelvis.

Patient Data

Age: 15 years
Gender: Male
x-ray

X-ray examination depicts multiple sessile and pedunculated osseous lesions. The lesions in the long bones are in the metaphyseal regions and project away from the epiphysis, typical for exostoses. The largest lesion located at the iliac crest. There is Madelung deformity in both forearms.

Case Discussion

Multiple osteochondromas, compatible with multiple hereditary exostoses (MHE). The osteochondromas in MHE have a greater risk of transformation to chrondrosarcoma than an isolated osteochondroma.

The forearms demonstrate the Madelung deformity, which is associated with MHE.

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