308 A case report illustrating the problem of VUS identification in the genetic diagnosis of congenital ichthyosis

Abstract

NGS gene panel screening significantly improves diagnosis of congenital ichthyoses, a genetically heterogeneous group of keratinization disorders with more than 60 causative genes. However, it can occur that variants of uncertain significance (VUS) are detected and therefore no definitive diagnosis could be established. We report the case of a female patient with congenital ichthyosis and palmoplantar keratoderma, born to healthy caucasian non-consanguineous parents without any family history of ichthyosis.