French Reference Center of Hereditary Epidermolysis Bullosa, Nice, France.
Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001.
Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by separation of the epidermis from the underlying dermis, with the cleavage plane lying within the basal-cell layer of the epithelium. The major clinical subtypes of EBS have a dominant inheritance and have been associated with genetic defects in specific domains of keratins K5 and K14 that result in abnormal organization of the keratin network and cell disruption. Autosomal recessive forms of EBS associated with extracutaneous manifestations, such as muscular dystrophy (MIM 226670) or pyloric atresia (MIM 612138), have been linked to genetic mutations in the gene for plectin (PLEC). PLEC mutations have also been found in 2 families with the rare dominant Ogna form of EBS. This article reviews current knowledge on EBS.
单纯型大疱性表皮松解症（EBS）是一种遗传性皮肤疾病，其特征是表皮与真皮分离，分裂面位于上皮的基层细胞层内。EBS 的主要临床亚型呈显性遗传，并与角蛋白 K5 和 K14 的特定结构域中的遗传缺陷相关，导致角蛋白网络的异常组织和细胞破坏。与肌肉萎缩症（MIM 226670）或幽门闭锁（MIM 612138）等皮肤外表现相关的常染色体隐性遗传形式的 EBS，已与桥粒斑蛋白（PLEC）基因的遗传突变相关。PLEC 突变也在 2 个罕见的显性 Ogna 型 EBS 家族中被发现。本文综述了目前对 EBS 的认识。
