Multiple Exostosis Disease

Abstract

Int. J. Clin. Rheumatol. (2021) 16(1), 033-036 ISSN 1758-4272 Introduction Multiple exostosis disease, also known as familial ostechondromatosis or diaphysealaclasis, is a rare genetic disease with an autosomal dominant disorder, characterized by the presence of multiple osteochondromas (exostoses) [1]. It is mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2) and does not appear to have a sexual predominance. This benign tumor affects 1 in 50,000 births. Osteochondromas appears in the first decade of life and stops growing at puberty. In the majority of cases, they are asymptomatic [1,2]. The most common location is at the lateral side of the most active growth plate of a long bone. Clinical problems include pain and functional impairment. Additionally, growth deformities of bones and short stature are considerably present. Malignant degeneration of osteochondroma is a rare but important complication [3].Sacrum localization is not usual. We report a case of a 20-year-old female patient who has anunhabitual localization in iliac bone, discovered in adolescence age.