F. Ballanger , G. Quéreux , J.-F. Stalder , S. Schmitt , S. Jacquemont
{"title":"Bourneville结节性硬化症","authors":"F. Ballanger , G. Quéreux , J.-F. Stalder , S. Schmitt , S. Jacquemont","doi":"10.1016/j.emcdc.2005.06.001","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100421,"journal":{"name":"EMC - Dermatologie-Cosmétologie","volume":"2 2","pages":"Pages 92-102"},"PeriodicalIF":0.0000,"publicationDate":"2005-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcdc.2005.06.001","citationCount":"3","resultStr":"{\"title\":\"Sclérose tubéreuse de Bourneville\",\"authors\":\"F. Ballanger , G. Quéreux , J.-F. Stalder , S. Schmitt , S. Jacquemont\",\"doi\":\"10.1016/j.emcdc.2005.06.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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.</p></div>\",\"PeriodicalId\":100421,\"journal\":{\"name\":\"EMC - Dermatologie-Cosmétologie\",\"volume\":\"2 2\",\"pages\":\"Pages 92-102\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2005-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.emcdc.2005.06.001\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"EMC - Dermatologie-Cosmétologie\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1762569605000077\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"EMC - Dermatologie-Cosmétologie","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1762569605000077","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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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