Bourneville结节性硬化症

EMC - Dermatologie-Cosmétologie Pub Date : 2005-05-01 DOI:10.1016/j.emcdc.2005.06.001

F. Ballanger , G. Quéreux , J.-F. Stalder , S. Schmitt , S. Jacquemont

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引用次数: 3

摘要

Bourneville结节性硬化综合征（BTS）的特征是错构瘤性病变，涉及皮肤（黑色素沉着性黄斑、面部血管纤维瘤、蹄周纤维瘤）、大脑（皮质结节、室管膜下结节）、肾脏（血管平滑肌脂肪瘤、肾囊肿）、心脏（横纹肌瘤）和眼睛。它是一种常染色体显性遗传性疾病，70%为自发突变。即使在同一个族中，表达式也是高度可变的。两个基因已被鉴定为引起BTS。TSC1位于9号染色体的长臂上，TSC2位于16号染色体的短臂上。精确的临床和放射学标准已经确定，并在最近进行了修订。

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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Sclérose tubéreuse de Bourneville

Bourneville tuberous sclerosis complex (BTS) is characterized by hamartomatous lesions that involve skin (hypomelanotic macules, facial angiofibromas, periungueal fibroma), brain (cortical tubers, subependymal nodules), kidney (angiomyolipoma, renal cysts), heart (rhabdomyoma) and eyes. It is an autosomal dominantly inherited disease with 70% of spontaneous mutation. Expression is highly variable even within the same family. Two genes have been identified as causing BTS. TSC1 is found on the long arm of chromosome 9 and TSC2 is situated on the short arm of chromosome 16. Precise clinical and radiological criteria have been identified and recently revised.

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