Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype–phenotype correlation

SW Oh, JS Lee, MY Kim, SC Kim - Journal of dermatological science, 2007 - jdsjournal.com
Epidermolysis bullosa simplex (EBS) is a group of hereditary skin diseases characterized by
blistering from mild trauma as a result of basal epidermal cells cytolysis. EBS is commonly
inherited in an autosomal dominant fashion due to mutations in cytokeratin genes 5 (K5) and
14 (K14). It is subdivided into three major subtypes according to symptom severity. EBS
Dowling-Meara (EBS-DM) is the most severe phenotype, characterized by herpetiform
blisters on the whole body and hyperkeratosis of the palms and soles. Electron …