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Article

Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.

Pediatric dermatology - 1 Mar 2021

Ganani Dalit, Malovitski Kiril, Sarig Ofer, Gat Andrea, Sprecher Eli, Samuelov Liat

Abstract excerpt

BACKGROUND: Epidermolysis bullosa simplex (EBS) is a heterogeneous group of inherited disorders characterized by skin fragility due to intraepidermal separation. Most cases result from heterozygous mutations in KRT5 or KRT14; however, a minority of affected individuals carry mutations in non-keratin genes including DST encoding an epithelial isoform of dystonin. DST-associated EBS is transmitted as an autosomal...

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PMID: 33471381
DOI: 10.1111/pde.14477

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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