Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene

Abstract

Epidermolysis bullosa simplex (EBS), an inherited geneticdisorder, is most often caused by a dominant-negative mutationin either the keratin 5 (KRT5) or the keratin 14 (KRT14)gene. These keratin mutants result in a weakened cytoskeletonand cause extensive cytolysis. It is important to analyzethe KRT5 or KRT14 genes of the patient and their familymembers by mutational analysis in order to identify geneticdefects as well as the need for genetic counseling. In thisstudy, we present a 5-year-old Korean boy who had beendeveloping blisters and erosions on the palms of his handsand soles of his feet since infancy. In addition, while hisyounger sister and father showed similar clinical manifestation,his mother did not. The patient was diagnosed withEBS based on clinical manifestation, which is characterizedby the presence of blisters restricted to the palms and soles,histological findings, and mutational analysis. Mutationalanalysis of the patient’s DNA revealed a thymine-to-cytosinetransition at codon 608 in the KRT-5 gene, resulting in aleucine-to-proline substitution in the keratin 5 protein. Thesame mutation was identified in the paternal, but notmaternal, DNA. Here, we report a case of Weber-Cockaynetype EBS with vesicles and bullae restricted to the palms andsoles with a novel, paternally inherited mutation in KRT5gene (exon2, c.608T>C).