{"title":"Dystrophic epidermolysis bullosa characterized by mucosal lesions in a Chinese familial case with a novel compound heterozygous mutation of COL7A1.","authors":"Qingying Lan, Hong Hua, Peiru Zhou","doi":"10.1111/1346-8138.17397","DOIUrl":null,"url":null,"abstract":"<p><p>Dystrophic epidermolysis bullosa (DEB) is a rare, but severe, subtype of epidermolysis bullosa. It is characterized mainly by blisters and miliary rashes of the skin, while oral mucosa-dominated cases are extremely rare. Here, we report the characteristics of oral mucosa lesions in a Chinese familial case of DEB with a novel compound heterozygous COL7A1 mutation. We further analyzed the genetic and molecular features of the proband and the two related mutation carriers. Our study further elucidates the genetic and phenotypic heterogeneity of DEB.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of dermatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/1346-8138.17397","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Dystrophic epidermolysis bullosa (DEB) is a rare, but severe, subtype of epidermolysis bullosa. It is characterized mainly by blisters and miliary rashes of the skin, while oral mucosa-dominated cases are extremely rare. Here, we report the characteristics of oral mucosa lesions in a Chinese familial case of DEB with a novel compound heterozygous COL7A1 mutation. We further analyzed the genetic and molecular features of the proband and the two related mutation carriers. Our study further elucidates the genetic and phenotypic heterogeneity of DEB.
萎缩性表皮松解症(DEB)是表皮松解症的一种罕见但严重的亚型。它主要表现为皮肤水疱和皮疹,而以口腔黏膜为主的病例则极为罕见。在此,我们报告了一例中国家族性 DEB 病例的口腔黏膜病变特征,该病例存在新型 COL7A1 复合杂合子突变。我们进一步分析了该病例和两个相关突变携带者的遗传和分子特征。我们的研究进一步阐明了 DEB 的遗传和表型异质性。