A novel mutation in the keratin 4 gene causing white sponge naevus

摘要: SummaryBackground White sponge naevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia, most commonly the buccal mucosa. Clinically, WSN manifests as thickened spongy mucosa with white opalescent tint in mouth and may be confused other disorders cause lesions on oral Recent studies have identified pathogenic mutations KRT4 KRT13, genes encoding mucosa-specific keratins, WSN. Objectives To search for possible KRT13. Methods We report case of young man who presented diffuse irregular whitish plaques involving gingival mucosae tongue. Results Pathologically, affected showed epithelial thickening, parakeratosis extensive vacuolization suprabasal keratinocytes. Mutation analysis revealed heterozygous missense mutation 1345GA KRT4, predicting an amino acid change, E449K, 2B domain K4 polypeptide. Conclusions We first Taiwanese patient WSN. Potentially this novel could disrupt stability keratin filaments result