A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis |
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Authors: | Kazuo Nomura Xianmin Meng Kaoru Umeki Katsuto Tamai Daisuke Sawamura Isao Hashimoto Tomoko Kikuchi |
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Affiliation: | (1) Department of Dermatology, Hirosaki University School of Medicine, 5 Zaifu-cho, 036 Hirosaki, Japan;(2) Division of Dermatology, Yuri Kumiai Sogo Hospital, 38 Kawaguchi Yago, 015 Honjou, Japan;(3) Department of Dermatology, Aomori Prefectural Central Hospital, 2-1-1 Higashi-Tsukurimichi, 030 Aomori, Japan |
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Abstract: | Summary Epidermolytic hyperkeratosis (EHK), or bullous congenital ichthyosiform erythroderma, is characterized by generalized erythroderma, ichthyosiform skin and blistering, and is caused by an aberration of the keratin intermediate filaments. In this study, we examined keratin K10 and 1 gene mutations in a Japanese EHK patient who had severe ichthyosiform erythroderma at birth and developed subsequent blistering. The patient 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 helix initiation peptide of the highly-conserved 1A domain in keratin K10. 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. |
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Keywords: | epidermolytic hyperkeratosis keratin K10 gene mutation |
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