M. Niasse, B. S. Kane, K. Condé, S. Touré, L. Sarr, C. Diouf, S. Diallo
{"title":"Multiple Exostosis Disease","authors":"M. Niasse, B. S. Kane, K. Condé, S. Touré, L. Sarr, C. Diouf, S. Diallo","doi":"10.29245/2572-9411/2019/2.1182","DOIUrl":null,"url":null,"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.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"23 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of rare diseases research & treatment","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29245/2572-9411/2019/2.1182","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2
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.