Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene

Epidermolytic hyperkeratosis (EHK; bullous congenital ichthyosiform erythro derma) is a genodermatosis resulting from mutations in either the keratin 1 (K1) or keratin 10 (K10) genes. It is characterized by erythroderma and bl istering at birth, and the development of ichthyotic hyperkeratosis and pal moplantar keratoderma. A wide variety of mutations within the highly conser ved helix initiation and termination motifs of the central rod domains of t he K1 or K10 genes correlate with the highly variable phenotypic severity o bserved in EHK. We report a novel missense mutation designated L214P in a l arge Hispanic pedigree with EHK. The mutation is located in the highly cons erved 1A segment of the alpha-helical rod domain. The presence of this muta tion underscores the importance of sequence alterations located in the cent ral rod domain in the pathogenesis of EHK.