Multiple hereditary osteochondromatosis in a family

AbstractBackgroundMultiple hereditary osteochondromatosis is characterized by the growth of benign cartilaginous tumors in the form of exostosis, mainly in the metaphysis of long bones. A prevalence of 1/50,000 individuals has been documented for this disease.Case reportsThis article presents the clinical information and the autosomal dominant inheritance pattern where exostosin genes (EXT gene family) were affected in three members of a family with multiple hereditary osteochondromatosis. The three patients showed limitation in the range of motion of wrists, shoulders and ankles. Clinical diagnosis was confirmed with radiology and malignancy was ruled out in all patients.ConclusionsThis disease requires frequent medical evaluation, surgical bone correction when the function is affected, surveillance for malignant transformation, and genetic counseling