IFAP syndrome

IFAP syndrome

Ichthyosis follicularis with alopecia and photophobia syndrome. An ultra-rare condition (10 cases reported in the world literature) characterised by follicular ichthyosis, atrichia and photophobia, as well as short stature, seizures, and recurring respiratory tract infections.

Pathogenesis
Deficiency in MBTPS2, a membrane-bound zinc metalloprotease required for cholesterol homeostasis and endoplasmic reticulum (ER) stress response.