Abstract
Epidermolysis bullosa simplex (EBS) is a skin disorder caused by dominant missense mutations in KERATIN5 (KRT5) or KERATIN14 (KRT14) gene, which encode intermediate filament (IF) proteins mainly expressed in epidermal basal keratinocytes. Incorporation of mutant keratins in network of IF makes the network sensitive to stress inducing inflammation and skin blistering formation. Currently, no therapeutic approach is known. Significant cytokine imbalance in blister fluid samples from different patients was demonstrated, suggesting that EB could be considered as inflammatory disorder rather than skin disorder.
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