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

[epidermolysis bullosa simplex]

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 (K 14 ) or K 5 , 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 K 5 /K 14 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 .