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Autosomal recessive congenital ichthyosis (ARCI) is an entity of rare genetic skin disorders with abnormal keratinization (1). Harlequin ichthyosis is the most severe type of ARCI, usually caused by truncation mutations in ABCA12. In subtypes of ARCI, such as lamellar ichthy osis (LI) and, congenital ichthyosiform erythroderma (CIE) mutations in TGM1, ABCA12, NIPAL4, ALOXE3, ALOX12B, CERS3, CYP4F22 and PNPLA1 have been reported (2–4). Mutations in NIPAL4, the gene encoding the NIPA-like domain containing 4 protein (NIPAL4/ichthyin) (5), have been identified in approximately 16% of patients with ARCI (2). We report here a case of ARCI with variable CIE symptoms. This is the first reported case with a mutation in NIPAL4 in East Asia.

A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin