Hereditary multiple exostoses (osteochondromatosis)

Case contributed by Leonardo Lustosa
Diagnosis certain

Presentation

Known history of hereditary multiple exostoses.

Patient Data

Age: 10 years
Gender: Male

Multiple exostoses with medullary continuity compatible with osteochondromas are noted on the metaphyses of:

  • distal femora

  • proximal tibias

  • proximal fibulas

  • distal radii

  • distal right ulna

  • distal left tibia

  • proximal left humerus

  • left scapula

Case Discussion

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

Malignant degeneration, 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 osteochondromatosis versus isolated osteochondromas.

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