Multiple Exostosis Disease

M. Niasse, B. S. Kane, K. Condé, S. Touré, L. Sarr, C. Diouf, S. Diallo
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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.
多发性外生性疾病
Int。j .中国。Rheumatol。(2021) 16(1), 033-036 ISSN 1758-4272介绍多发性骨软骨瘤病,又称家族性骨软骨瘤病,是一种罕见的常染色体显性遗传病,以多发性骨软骨瘤(exostoses)为特征[1]。它主要是由两个基因:exostoin -1 (EXT1)和exostoin -2 (EXT2)的功能突变丧失引起的,并且似乎没有性别优势。这种良性肿瘤的发病率为五万分之一。骨软骨瘤出现在生命的头十年,并在青春期停止生长。在大多数情况下,它们是无症状的[1,2]。最常见的位置是在长骨最活跃的生长板的外侧。临床问题包括疼痛和功能障碍。此外,骨骼发育畸形和身材矮小也相当普遍。骨软骨瘤恶性变性是一种罕见但重要的并发症[3]。骶骨定位不常见。我们报告一例20岁的女性患者谁有一个不习惯定位在髂骨,发现在青春期。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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