Hereditary multiple exostoses: One center's experience and review of etiology : Genetics of childhood diseases

Hereditary multiple exostosis is a genetic disorder characterized by multiple osteochondromas that can cause pain, deformity, and potential malignant degeneration. Linkage analysis has identified a family of EXT genes which, if mutated, can lose heterozygosity and potentially cause osteochondromas. A database was established of 43 patients with hereditary multiple exostoses treated at a tertiary pediatric healthcare system. Twenty patients had a known family history of the disorder. All patients were diagnosed between birth and 13 years. Symptoms or deformity were observed in the forearms of 29 patients, the knees of 37 patients, and the ankles of 28 patients. Valgus knee deformity related to hereditary multiple exostoses, previously reported to be attributable to proximal tibial changes alone, resulted from proximal tibial or distal femoral valgus deformities in this series. Twenty-seven patients required between one and five surgeries to address their lesions. No patient had malignant degeneration of an osteochondroma; however, three patients had first-degree relatives with transformation of an osteochondroma to chondrosarcoma. This database now may be a resource for additional analysis. By correlating specific genetic mutations with clinical manifestations, it may be possible to stratify patients into subtypes of hereditary multiple exostoses and identify genetic markers associated with malignant degeneration.