open access

https://hdl.handle.net/2115/30282

Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis

英語

palmoplantar keratoderma

2007-06

Nature Publishing Group

Journal of Investigative Dermatology

127(6)

1371-1374

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.

学術雑誌論文

Accepted Manuscript

Nature Publishing Group, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 127(6), 2007, pp.1371-1374.

0022-202X

1523-1747