Epidermolysis bullosa simplex: A paradigm for disorders of tissue fragility

Pierre A. Coulombe, Michelle L. Kerns, Elaine Fuchs

Research output: Contribution to journalReview articlepeer-review

133 Scopus citations

Abstract

Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin. Most cases are due to dominantly acting mutations in either keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins tasked with forming a pancytoplasmic network of 10-nm filaments in basal keratinocytes of the epidermis and in other stratified epithelia. Defects in K5/K14 filament network architecture cause basal keratinocytes to become fragile and account for their trauma-induced rupture. Here we review how laboratory investigations centered on keratin biology have deepened our understanding of the etiology and pathophysiology of EB simplex and revealed novel avenues for its therapy.

Original languageEnglish (US)
Pages (from-to)1784-1793
Number of pages10
JournalJournal of Clinical Investigation
Volume119
Issue number7
DOIs
StatePublished - Jul 1 2009
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine

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