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