The main disorder associated with KRT14 (and KRT5), EBS, is typically caused by dominantly acting missense alleles (Coulombe et al., 2009) but also arises in individuals whose genome is homozygous for the equivalent of null alleles (Chan et al., 1994; Jonkman et al., 1996; Rugg et al., 1994). The gene discussed is KRT5; the disease is epidermolysis bullosa simplex.