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

BACKGROUND: The 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). METHODS: We present an 11‐year‐old male with typical clinical features of IFAP syndrome, including diffuse follicular hyperkeratosis, alopecia, photophobia, psoriasiform plaques, short statue, nail dystrophy, mental retardation, and seizures. RESULTS: A novel missense mutation (NM_015884.4: c.1298T > C; NP_056968.1: p. L433P) in the membrane‐bound transcription factor peptidase, site 2 gene (MBTPS2) was identified in our patient. The heterozygous MBTPS2 mutation was identified in his mother but not his father. CONCLUSION: This study demonstrated a novel MBTPS2 mutation in a patient with IFAP syndrome and thus expands the known MBPTS2 molecular repertoire.