Epidermolysis bullosa simplex is an autosomal dominant inherited skin blistering 
disorder caused by mutations in the genes KRT5 or KRT14 coding for the basal 
epidermal keratins 5 and 14, respectively. We describe a novel heterozygous 
pathogenic missense mutation (KRT5:c.596A>T, p.Lys199Met) in a Hindoestan male 
with early onset localized epidermolysis bullosa simplex that segregated with 
the phenotype in the family. We also found a new heterozygous amino acid 
substitution polymorphism in the variable keratin 14 N-terminal head domain 
(KRT14:c.88C>T, p.Arg30Cys), that did not segregate with the phenotype.