Epidermolysis Bullosa Simplex
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Epidermolysis bullosa simplex (EBS) is a mechanobullous disorder where the skin fragility affects the epidermis. There are both basal and suprabasal subtypes depending on where the blister occurs. It is inherited predominantly in an autosomal dominant fashion. Multiple genes have been implicated in EBS including PKP-1 and DSP for suprabasilar lesions and KRT5, KRT14, PLEC1, ITGA6, ITGB4, and DST for basilar lesions. These gene mutations correlate to proteins such as plakophilin-1, desmoplakin, keratin-5, keratin-14, plectin, alpha-6 beta-4 integrin, and dystonin, respectively .