A Family with Hereditary Multiple Exostoses

Abstract

Hereditary multiple exostoses is a rare autosomal dominant genetic disorder characterized by multiple exostoses (osteochondromas), mostly diagnosed in childhood. It may manifest with a wide spectrum from asymptomatic to skeletal deformities or neurovascular complications. Pain and/or swelling are often the first symptoms for patients to consult a doctor. Although no medical treatment is currently available, lesions can be removed with surgical excision in case ofaesthetic anxiety or complications such as deformities or rarely, malign transformation. In this article, three individuals from the same familywithhereditarymultipleexostosesaredescribedwhowereevaluatedwithinthecore competencies of family medicine.