A thoracic complication of hereditary multiple exostoses in an adult

Hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region of the long bones. Exostoses that affect "almost every bone in the body" were first mentioned by John Hunter in his Lectures on the principles of surgery in 1786.1 The first family affected by H...

Manifestations of hereditary multiple exostoses.

The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...

Non-Traumatic Fracture of an Osteochondroma Mimicking Malignant Degeneration in an Adult with Hereditary Multiple Exostoses

A 38-year-old man with a known history of hereditary multiple exostoses and no history of trauma presented with a painful right femur mass. While the clinical presentation was concerning for malignant degeneration or a large overlying bursitis, the radiologic evaluation demonstrated a large fractured pedunculated osteochondroma with a thick cartilage cap and underlying bone marrow edema. Trauma...

Hereditary multiple exostoses: report of a kindred.

In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk. In large pedigrees with essentially complete ascertainment of affec...

Hereditary multiple exostoses: A case-report.