A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare X-linked recessive genetic disorder caused by mutations in the MBTPS2 gene, primarily affecting males. A 7-year-old boy with scanty hair and severe photophobia was diagnosed with IFAP syndrome, presenting with scaly patches and follicular hyperkeratotic papules. Genetic analysis identified a novel homozygous missense mutation (c.245T>C, p.Phe82Ser) in the MBTPS2 gene, not previously reported in major mutation databases. This mutation may predict a mild form of IFAP syndrome, limited to the classic triad of symptoms.