Hereditary Multiple Exostoses: A Current Understanding of Clinical and Genetic Advances

Background Osteochondroma is the most common bone tumor seen in children [6,22,59]. This cartilage-capped exostosis is found primarily at the juxta-epiphyseal region of the most rapidly growing ends of long bones [59,78]. The true prevalence is not known since many patients with asymptomatic lesions are never diagnosed. A unique subset of patients, however, suffers from hereditary multiple exostosis (HME), an autosomal-dominant disorder manifested by multiple osteochondromas and frequently associated with characteristic progressive skeletal deformities. Recent advances in understanding the molecular and genetic basis of this condition not only offer hope for patients and families with HME, but also offer clues to the underlying basis for the formation of