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.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
40 citations
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August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
36 citations
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January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
2 citations
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March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
40 citations
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August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
