A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

A 7-year-old boy with ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome was identified with a novel homozygous missense mutation in the MBTPS2 gene (c.245T>C, p.Phe82Ser). This X-linked recessive disorder, which includes symptoms like ichthyosis, alopecia, and photophobia, presented mildly in this case, aligning with previous genotype-phenotype correlations. The mutation in the TM2 domain of MBTPS2 suggests high residual catalytic activity, resulting in a milder form of the syndrome. This case reinforces that specific MBTPS2 mutations can predict the severity of the disease.