Ichthyosis follicularis with alopecia and photophobia syndrome explained

IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.^[1] It is extremely rare: there were only 40 known cases (all male) until 2011.^[2]

Symptoms and signs

The main symptoms are given by its name: dry, scaly skin (ichthyosis), absence of hair (atrichia) and excessive sensitivity to light (photophobia). Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.^[3]

Genetics

Most cases are X-linked recessive but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms. The gene or genes causing this disease are not known.

Diagnosis

Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.^[4]

See also

• Cicatricial alopecia
• List of cutaneous conditions

Notes and References

1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
2. Mégarbané. Hala. Mégarbané. André. 2011-05-21. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet Journal of Rare Diseases. 6. 29. 10.1186/1750-1172-6-29. 1750-1172. 3127745. 21600032 . free .
3. OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis follicularis, atrichia and photophobia
4. Boente M del, Bibas-Bonet H, Coronel AM, Asial RA; Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?, European Journal of Dermatology. Volume 10, Number 2, 98-102, March 2000