Last reviewed dd mmm yyyy. Last edited dd mmm yyyy
aetiology of epidermolysis bullosa simplex
Mutations in the keratin genes K5 and K14 may lead to EBS (1). Majority of cases are inherited autosomal dominantly (2). These intermediate filaments are expressed at high levels in the basal layer of the skin (1).
Mutations in K5 and K14 have a dominant disruptive effect on the resilience of the basal cell layer, resulting in cytolysis of the keratinocytes (2).
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