A novel mutation in MBTPS2 causes ichthyosis follicularis alopecia and photophobia syndrome

摘要

BackgroundThe ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non‐scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane‐bound transcription factor peptidase, site 2 (MBTPS2).