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Abbreviations: AE, atopic eczema; CI, confidence interval; Con, healthy control; OR, odds ratio. For combined genotype: asthma+AE, exact P-value of Pearson w 2 -test=0.0122, OR and 95% CI for dominant models (AA vs aX)=7.3692 (1.7715-30.6748); asthmaÀAE, exact P-value of Pearson w 2 -test=0.5563, OR and 95% CI for dominant models (AA vs aX)=1.6124 (0.4979-5.2219); all asthma, exact P-value of Pearson w 2 -test=0.1968, OR and 95% CI for dominant models (AA vs aX)=2.2523 (0.7609-6.6667).www.jidonline.org 2835 R Osawa et al.

A novel splice site mutation, c.582+1delG, in NCSTN was identified in the familial patients with HS. We also reveal for the first time that a γ-secretase gene mutation is not linked to the development of nonfamilial HS. These results would further pave the way to a better understanding of the contribution of γ-secretase and other genes to the pathogenesis of HS and to the development of a new therapeutic strategy for HS.

Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (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 the 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. To our knowledge, the present patient is the first reported case of epidermal nevus associated with EH caused by a K1 gene mutation in a mosaic pattern.