Junctional and Dystrophic Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a congenital genodermatosis, which affects mainly skin and occasionally other organs [1]. Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1]. The most common cause of death is metastasizing squamous cell carcinoma [2]. EB is subdivided into mainly three categories by the location of tissue separation (blister) in the basement membrane zone (BMZ) at the electronmicroscopical level, EB simplex (EBS), dystrophic EB (DEB) and junctional EB (JEB)[1]. Some dermatologists also proposed to distinguish hemidesmosomal epidermolysis bullosa [3]. In EBS, blister locates at the level of basal keratinocytes, in DEB at the level of lamina lucida and in DEB at the level of the dermis [1]. EB is mainly caused by the mutation of keratin filament, hemidesmosome components or collagen genes [1]. Thus far, at least 10 different genes are identified as causative genes for EB [1,4,5].