Medicine:Ichthyosis follicularis with alopecia and photophobia syndrome
| IFAP syndrome | |
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| Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred)[1] |
IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.[2]:564 It is extremely rare: there were only 40 known cases (all male) until 2011.[3]
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.[4]
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.[4]
Diagnosis
Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.[5]
See also
- Cicatricial alopecia
- List of cutaneous conditions
References
- ↑ "OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME" (in en-us). https://omim.org/entry/308205.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
- ↑ Mégarbané, Hala; Mégarbané, André (2011-05-21). "Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome". Orphanet Journal of Rare Diseases 6: 29. doi:10.1186/1750-1172-6-29. ISSN 1750-1172. PMID 21600032.
- ↑ 4.0 4.1 OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis follicularis, atrichia and photophobia
- ↑ 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
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