Zappel Kristina, Bruckner-Tuderman Lena, Müller Dominik, Audring Heike, Kolde Gerd, Biewald Wolfgang, Blume-Peytavi Ulrike
Klinik für Dermatologie und Allergologie, Universitätsklinikum Charité der Humboldt-Universität zu Berlin.
J Dtsch Dermatol Ges. 2003 Jan;1(1):50-6.
Epidermolysis bullosa (EB), a hereditary, blistering form of dermatosis, can be divided into the following three main groups: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). The previously known form of generalized atrophic benign epidermolysis bullosa (GABEB) is classified as junctional epidermolysis bullosa non-Herlitz (JEB-nH) today. An 11-year-old boy with junctional epidermolysis bullosa non-Herlitz with urethal involvement had a complicated course with bladder obstruction and secondary renal insufficiency. According to currently available literature, this is the earliest case known of JEB-nH with involvement of the urinary tract in childhood. Taking into account the complicated course in this young patient, it must be emphasized that in cases of epidermolysis bullosa hereditaria, uncommon affections occurring in infancy should be given careful attention, as such types of associated manifestations are mainly responsible for the lethality in this disease.
大疱性表皮松解症（EB）是一种遗传性的、以水疱形成为特征的皮肤病，可分为以下三个主要类型：单纯型大疱性表皮松解症（EBS）、交界型大疱性表皮松解症（JEB）和营养不良型大疱性表皮松解症（DEB）。以前已知的泛发性萎缩性良性大疱性表皮松解症（GABEB）如今被归类为非赫利茨交界型大疱性表皮松解症（JEB-nH）。一名患有非赫利茨交界型大疱性表皮松解症且累及尿道的11岁男孩病程复杂，出现膀胱梗阻和继发性肾功能不全。根据目前可得的文献，这是已知最早的儿童期非赫利茨交界型大疱性表皮松解症累及泌尿道的病例。考虑到这名年轻患者病程复杂，必须强调的是，在遗传性大疱性表皮松解症病例中，婴儿期出现的罕见病症应予以密切关注，因为这类相关表现是导致该疾病致死的主要原因。
