Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis

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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-oldJapanese 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 granulardegeneration 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 sitemutation c.591+2T>A in KRT1. This mutation was not detected in genomic DNA samples from patient’s peripheral blood leukocytes or those of otherfamily members. The identical splice mutation was previously reported in a family with palmoplantar keratoderma and mild ichthyosis, and wasdemonstrated 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.
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