Bruckner-Tuderman L
Department of Dermatology, University of Münster, Germany.
Ann Med. 1994 Jun;26(3):165-71. doi: 10.3109/07853899409147885.
Recent developments of the molecular and cell biology of the cutaneous basement membrane zone have greatly advanced our understanding of the pathomechanisms underlying skin blistering disorders. The heritable blistering diseases, the epidermolysis bullosa group, have been investigated as model diseases. Defects in genes coding for the structural proteins of the basement membrane zone have been defined in some EB subtypes and abnormal expression of the structural proteins in others. In vitro studies utilizing cutaneous cells derived from epidermolysis bullosa skin have helped to understand the pathogenetic pathways that lead from the mutation to the symptom, skin blistering. The data accumulated from analyses of the genetic disorders will yield indirect information on the normal physiology of the skin and be highly relevant for discerning the etiopathogenesis of acquired blistering diseases and for dermal-epidermal interactions required for reparative processes, such as wound healing.
皮肤基底膜带分子与细胞生物学的最新进展极大地推动了我们对皮肤水疱性疾病发病机制的理解。遗传性水疱性疾病，即大疱性表皮松解症组，已作为模型疾病进行研究。在一些大疱性表皮松解症亚型中已明确了编码基底膜带结构蛋白的基因缺陷，而在其他亚型中则发现了结构蛋白的异常表达。利用源自大疱性表皮松解症皮肤的皮肤细胞进行的体外研究有助于理解从突变到症状（皮肤水疱形成）的致病途径。从这些遗传性疾病分析中积累的数据将为皮肤的正常生理学提供间接信息，对于识别获得性水疱性疾病的病因发病机制以及修复过程（如伤口愈合）所需的真皮 - 表皮相互作用具有高度相关性。
