More recently, the genotypic landscape of EKV has been extended by the application of next-generation sequencing (NGS) and it has been demonstrated that mutations in ichthyosis-related genes involving ABHD5, ELOVL4 and PNPLA1 are associated with rare clinical variants of EKV or EKV-like syndromes that can occur with or without typical clinical presentation of ichthyosis [20–22]. Here, ELOVL4 is linked to ichthyosis.