Around 70% of cases with severe EBS are generated by one mutation in the KRT5 gene (c.1429G > A; p.Glu477Lys or E477K) and three other in the KRT14 gene (c.373C > T [p.Arg125Cys or R125C]; c.374G > A [p.Arg125His or R125H]; c.368A > G [p.Asn123Ser or N123S]) [26]. The gene discussed is KRT5; the disease is epidermolysis bullosa simplex.