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Aetiology of epidermolysis bullosa simplex

Last reviewed 1 Jan 2018

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).

Reference:

1. Ciubotaru D et al. Epidermolysis Bullosa Simplex in Israel. Arch Dermatol. 2003;139:498-505
2. Rugg E.L et al. Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations. JID 2007;127: 574-580

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