IngentaConnect Loricrin keratoderma: a cause of congenital ichthyosiform erythro...

Authors: Matsumoto K.; Muto M.; Seki S.; Saida T.; Horiuchi N.¹; Takahashi H.²; Ishida-Yamamoto A.²; Iizuka H.²

Source: British Journal of Dermatology, Volume 145, Number 4, October 2001 , pp. 657-660(4)

Abstract:

A group of hereditary palmoplantar keratodermas due to heterozygous mutation in the loricrin gene has recently been identified. Of five reported pedigrees, four presented as mutilating keratoderma with ichthyosis (variant Vohwinkel syndrome), and one as progressive symmetric erythrokeratoderma. We report a new Japanese pedigree of loricrin keratoderma. A 14-year-old male and his 11-year-old female sibling had both been born as collodion babies and were initially diagnosed as having non-bullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum. Their father was similarly affected. Direct sequencing of genomic DNA revealed a G residue insertion at codon 230–231 of the loricrin gene. Antibody studies confirmed the presence of mutant loricrin in the retained nuclei. We conclude that loricrin gene mutation may present as congenital ichthyosiform erythroderma, and should be included in the differential diagnosis of collodion baby.

Keywords: collodion baby; congenital ichthyosiform erythroderma; loricrin keratoderma; mutilating keratoderma; pseudoainhum

Document Type: Research article

DOI: 10.1046/j.1365-2133.2001.04412.x

Affiliations: 1: Division of Dermatology, Saku General Hospital, 197 Usuda, Usuda-machi 384-0301, Japan 2: Department of Dermatology, Asahikawa Medical College, 2-1-1 Midorigaoka Higashi, Asahikawa 078-8510, Japan

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Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby