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Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis

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Title: Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis
Authors: Tsubota, Akiko Browse this author
Akiyama, Masashi Browse this author
Sakai, Kaori Browse this author
Goto, Maki Browse this author
Nomura, Yukiko Browse this author
Ando, Satomi Browse this author
Abe, Masataka Browse this author
Sawamura, Daisuke Browse this author
Shimizu, Hiroshi Browse this author →KAKEN DB
Keywords: bullous congenital ichthyosiform erythroderma
epidermolytic hyperkeratosis
granular degeneration
mosaicism
palmoplantar keratoderma
Issue Date: Jun-2007
Publisher: Nature Publishing Group
Journal Title: Journal of Investigative Dermatology
Volume: 127
Issue: 6
Start Page: 1371
End Page: 1374
Publisher DOI: 10.1038/sj.jid.5700712
PMID: 17255957
Abstract: Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by K10 gene mutations have been reported, although no K1 gene mutation has yet been reported. We detected a K1 gene (KRT1) mutation in epidermal nevus with EH in a 10-year-old Japanese male. The patient showed well-demarcated verrucous, hyperkeratotic plaques mainly on the trunk, covering 15 % of the entire body surface. No hyperkeratosis was seen on the palms or soles. He had no family history of skin disorders. His lesional skin showed typical granular degeneration and, ultrastructurally, clumped keratin filaments were observed in the upper epidermis. Direct sequence analysis of genomic DNA extracted from lesional skin revealed a heterozygous 5’ donor splice site mutation c.591+2T>A in KRT1. This mutation was not detected in genomic DNA samples from patient’s peripheral blood leukocytes or those of other family members. The identical splice mutation was previously reported in a family with palmoplantar keratoderma and mild ichthyosis, and was demonstrated to result in a 22 amino acid deletion p.Val175_Lys196del in the H1 and 1A domains of K1. The present patient is the first reported case of epidermal nevus associated with EH caused by a K1 gene mutation in a mosaic pattern.
Rights: Nature Publishing Group, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 127(6), 2007, pp.1371-1374.
Relation: http://www.nature.com/npg/
Type: article (author version)
URI: http://hdl.handle.net/2115/30282
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 秋山 真志

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