Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.

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… (More)
DOI: 10.1172/JCI38177

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