Schumann H
Universitäts-Hautklinik, Universitätsklinikum Freiburg, Hauptstr. 7, 79104 Freiburg.
Hautarzt. 2009 Aug;60(8):614-21. doi: 10.1007/s00105-008-1677-x.
Epidermolysis bullosa (EB) represents a group of diseases characterized by skin fragility usually developing blisters after minimal trauma. The clinical picture ranges from mild subtypes with minor skin reactions to severe forms with lethal outcome within the first months of life. In the severe generalized subtypes, complications such as aggressive squamous cell carcinoma of the skin, anemia, esophageal stenosis and cardiomyopathy can occur so that multidisciplinary patient care is necessary. EB can be divided in four types--EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. All together 33 subtypes can be distinguished. In 2008 a revised EB classification was introduced. Several eponyms for EB subtypes were replaced by descriptive names. The review presents the EB subtypes based on the new EB classification system, the molecular background and new therapeutic options.
大疱性表皮松解症（EB）是一组以皮肤脆弱为特征的疾病，通常在受到轻微创伤后就会出现水疱。临床表现范围从皮肤反应轻微的轻度亚型到出生后数月内就会导致致命后果的严重形式。在严重的全身性亚型中，可能会出现侵袭性皮肤鳞状细胞癌、贫血、食管狭窄和心肌病等并发症，因此需要多学科的患者护理。EB可分为四种类型——单纯型大疱性表皮松解症（EBS）、交界型大疱性表皮松解症（JEB）、营养不良型大疱性表皮松解症（DEB）和Kindler综合征。总共可区分出33个亚型。2008年引入了修订后的EB分类。EB亚型的几个以人名命名的名称被描述性名称所取代。本综述基于新的EB分类系统、分子背景和新的治疗选择介绍了EB亚型。
