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A Family with Hereditary Multiple Exostoses

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 of aesthetic anxiety or complications such as deformities or rarely, malign transformation. In this article, three individuals from the same family with hereditary multiple exostoses are described who were evaluated within the core competencies of family medicine.

Keywords: exostoses, multiple hereditary, osteochondroma, scoliosis