273 Serum interleukin-18 as a disease-specific marker of epidermolytic ichthyosis: a potential therapeutic target

Abstract

Epidermolytic ichthyosis (EI) is a major form of congenital ichthyosis and characterized by erythroderma, marked scales, bulla, and erosions at birth. EI is recently classified as keratinopathic ichthyoses and caused mainly by heterozygous mutations in the KRT1 or KRT10 genes, encoding keratin (K) 1 or K10, respectively. No effective treatment strategy for EI has been established yet. To investigate disease-specific markers and novel therapeutic targets in EI, we examined serum samples for 9 patients with congenital ichthyoses including five EI patients, one ichthyosis with confetti patient, one Netherton syndrome patient, and two autosomal recessive congenital ichthyosis patients.