A KERATIN K10 GENE MUTATION IN A JAPANESE PATIENT WITH EPIDERMOLYTIC HYPERKERATOSIS

Epidermolytic hyperkeratosis (EHK), or bullous congenital ichthyosifor m erythroderma, is characterized by generalized erythroderma, ichthyos iform skin and blistering, and is caused by an aberration of the kerat in intermediate filaments. In this study, we examined keratin K10 and 1 gene mutations in a Japanese EHK patient who had severe ichthyosifor m erythroderma at birth and developed subsequent blistering. The patie nt had a G to A transition at codon 156 of the keratin K10 gene, which resulted in an arginine (Arg)-->histidine (His) substitution in the h elix initiation peptide of the highly-conserved 1A domain in keratin K 10. This is the first mutation report of a Japanese patient with EHK, although the position and mode of the mutation identified here did not differ from those in reported Western cases.