Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare genetic, oculocutaneous disorder. So far, about forty patients have been reported worldwide. This disorder results from mutations in the membrane-bound transcription factor protease site 2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. We report this rare case of IFAP with atypical presentation and it was interesting to note that alopecia in this child was confined to eyebrows; this unique presentation has not been described earlier. This rare oculocutaneous disorder requires proper documentation so that identification of its variants may be possible in the future.