A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2

This study reports on a Brazilian male patient diagnosed with IFAP syndrome, a rare X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, along with additional anomalies such as severe congenital ichthyosis, cryptorchidism, limb malformation, and features of BRESHECK syndrome. The patient's condition was found to be caused by a rare missense variant in the MBTPS2 gene, identified through whole-exome sequencing. This variant was not present in other family members, making this the first documented case of IFAP syndrome in Brazil with a molecular investigation, thereby contributing to the understanding of the genetic variations associated with this syndrome.