Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins that cop...

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Published inJournal of investigative dermatology Vol. 132; no. 3; pp. 763 - 775
Main Authors Coulombe, Pierre A., Lee, Chang-Hun
Format Journal Article
LanguageEnglish
Published New York, NY Elsevier Inc 01.03.2012
Nature Publishing Group
Elsevier Limited
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Summary:Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins that copolymerize to form a pancytoplasmic network of 10nm filaments in basal keratinocytes of epidermis and related epithelia. Defects in K5–K14 filament network architecture cause basal keratinocytes to become fragile, and account for their rupture upon exposure to mechanical trauma. The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia. Since then, continued cross-fertilization between basic science efforts and clinical endeavors has highlighted several additional functional roles for keratin proteins in the skin, suggested new avenues for effective therapies for keratin-based diseases, and expanded our understanding of the remarkable properties of the skin as an organ system.
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ISSN:0022-202X
1523-1747
DOI:10.1038/jid.2011.450