Novel MBTPS 2 Missense Mutation in the N‐Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome

Ichthyosis follicularis, alopecia, and photophobia ( IFAP ) syndrome is an X‐linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS 2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS 2 mutation in the N‐terminal transmembrane domain.