IFAP syndrome with or without BRESHECK syndrome
Definition An über rare–10 cases in the world literature–condition (OMIM:308205) characterised by follicular ichthyosis, atrichia and photophobia, as well as short stature, seizures, and recurring respiratory tract infections.
Molecular pathology Defects in MBTPS2, a membrane-bound zinc metalloprotease required for cholesterol homeostasis and endoplasmic reticulum–stress response, cause IFAP syndrome with or without BRESHECK
Synonyms Ichthyosis follicularis—atrichia—and photophobia with or without brain anomalies—retardation—ectodermal dysplasia—skeletal malformations—Hirschsprung disease—ear/eye anomalies—cleft palate/cryoptorchidism—and kidney dysplasia/hypoplasia, ichthyosis follicularis with alopecia and photophobia syndrome
Am J Hum Genet 2009; 84:459-467, 10 April 2009