Epidermolysis Bullosa Simplex: a Paradigm for Disorders of Tissue Fragility

Overview

Journal J Clin Invest

Specialty General Medicine

Date 2009 Jul 10

PMID 19587453

Citations 90

Authors

Pierre A Coulombe

Michelle L Kerns

Elaine Fuchs

Affiliations

Soon will be listed here.

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.

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