Hereditary multiple exostoses

Case contributed by Leonardo Lustosa
Diagnosis certain

Presentation

Known history of hereditary multiple exostoses

Patient Data

Age: 8 years
Gender: Male

Lower limbs

x-ray

Multiple exostoses projecting from the metaphyseal regions of the femora, tibias, and fibulas bilaterally, most noticeably around the knees.

Upper limbs

x-ray

Multiple exostoses projecting from the metaphyseal regions of the humeri, radii, and ulnas bilaterally, most noticeably in the distal region of the forearms.

Chest and pelvis

x-ray

Case Discussion

Hereditary multiple exostoses (HME) a.k.a. osteochondromatosis is an autosomal dominant disorder in which mutations cause the development of multiple osteochondromas during skeletal growth.

Malignant transformation, most commonly into chondrosarcomas, is a possible complication.

Because the true incidence of osteochondromas is likely to be underestimated, it is hard to compare the incidence of multiple osteochondromas vs isolated osteochondromas.

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