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Article

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

The Journal of investigative dermatology - 1 Mar 2007

Rugg Elizabeth L, Horn Helen M, Smith Frances J, Wilson Neil J, Hill Alison J M, Magee Gareth J, Shemanko Carrie S, Baty David U, Tidman Michael J, Lane E Birgitte

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caused by mutations in keratins K5 (keratin 5) and K14 (keratin 14), with fragility of basal keratinocytes leading to epidermal cytolysis and blistering. Patients present with widely varying severity and are classified in three main subtypes: EBS Weber-Cockayne (EBS-WC), EBS Köbner (EBS-K), and EBS Dowling-Meara (EBS-DM), based on distribution and...

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PMID: 17039244
DOI: 10.1038/sj.jid.5700571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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