Pb. Cserhalmi-friedman et al., Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene, CLIN EXP D, 25(3), 2000, pp. 241-243
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.