Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) with or without BRESK/BRESHECK syndrome has been associated with mutations in the MBTPS2 gene.
IFAP syndrome is characterized by the triad of follicular ichthyosis, total or subtotal atrichia, and of photophobia to variable degree. Congenital atrichia is most prevalent and most affected boys have total atrichia at birth. A subgroup of patients has been described with lamellar rather than follicular ichthyosis. Less common features include nail dystrophy, growth and psychomotor retardation, aganglionic megacolon, and seizures. Female carriers may show features of the disorder, including a linear pattern of follicular ichthyosis, mild atrophoderma, hypotrichosis, and hypohidrosis. Some individuals may have additional features, which constitute BRESK/BRESHECK syndrome. These features include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies, with or without Hirschprung disease and cleft palate or cryptorchidism.