Ichthyosis follicularis with alopecia and photophobia syndrome
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an extremely rare genetic syndrome caused by mutations in the MBTPS2 gene. [2]: 564 It is extremely rare: there were only 40 known cases (all male) until 2011.[3]
| IFAP syndrome | |
|---|---|
 | |
| Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred)[1] | |
| Specialty | Medical genetics  |
Symptoms and signs
editThe 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
editMost 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. It is caused by mutations in the MBTPS2 gene.[1]
Diagnosis
editDiagnosis 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
editReferences
edit- ^ a b "OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME". omim.org. Retrieved 21 July 2017.
- ^ 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. PMC 3127745. PMID 21600032.
- ^ 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