Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome
January 2011
in “
Orphanet Journal of Rare Diseases
”
TLDR IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) syndrome was a rare X-linked genetic disorder affecting over 40 reported patients, characterized by congenital ichthyosis, alopecia, and photophobia. Additional symptoms included short stature, intellectual disability, and seizures. The disorder was linked to mutations in the MBTPS2 gene, impacting cholesterol homeostasis and endoplasmic reticulum stress response. Skin histopathology revealed non-specific features such as dilated hair follicles with keratin plugs. Treatments like acitretin therapy were used for skin symptoms but were ineffective for alopecia and photophobia. Intensive eye lubrication was essential, and life expectancy varied, with cardiopulmonary complications being the leading cause of death.
