Faculty of Medicine, Department of Dermatology, Medical Center, University of Freiburg, University of Freiburg, Freiburg, Germany.
Faculty of Medicine, Department of Human Genetics, Medical Center, University of Freiburg, University of Freiburg, Freiburg, Germany.
Exp Dermatol. 2019 Oct;28(10):1146-1152. doi: 10.1111/exd.13668. Epub 2018 Jun 28.
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here, we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years.
遗传性大疱性表皮松解症（EB）是一组以皮肤脆弱为特征的异质性遗传疾病。EB 包括一系列表型，从由于关键黏附蛋白缺失导致的严重皮肤和皮肤外受累，到由于细微分子缺陷导致的轻度皮肤脆弱。20 个不同基因的致病变异导致了 EB 的遗传和等位基因异质性。在这里，我们讨论了使这些发现成为可能的实验室方法的发展，以及在过去 5-6 年内阐明的一些新的 EB 实体的临床和分子特征。
