Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.

doi:10.3390/ijms25179495

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Article

Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.

International journal of molecular sciences - 31 Aug 2024

Bchetnia Mbarka, Powell Julie, McCuaig Catherine, Boucher-Lafleur Anne-Marie, Morin Charles, Dupéré Audrey, Laprise Catherine

Abstract excerpt

Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of mechanobullous diseases characterized by non-scarring blisters and erosions on the skin and mucous membranes upon mechanical trauma. The simplex form (EBS) is characterized by recurrent blister formation within the basal layer of the epidermis. It most often results from dominant mutations in the genes coding for keratin (K) 5 or 14...

Topics

Epidermolysis Bullosa Simplex
Humans
Animals
Keratin-5
Keratin-14
Mutation
Keratinocytes

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Identifiers

PMID: 39273442
DOI: 10.3390/ijms25179495
PMCID: PMC11394917

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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