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] | |
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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]
Management
Our son has IFAD syndrome. Skin Treatment: We have found over the past few years (he's now 3) that diluting a little house hold bleach into his bath deters the onset of skin infection such as Staph. We dilute 10-15ml of bleach approximately 20-30 litres of luke warm water. After bathing we pat him down gently (not rub with the towel) and then apply a "UREA" based skin cream and follow that up with a second cream ( we use a brand called "QV". Regarding Ear infection - We mix a little vinegar with olive oil (or water) and apply two drops into the ear while he sleeps.[citation needed]
See also
References
- ↑ "OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME". omim.org. Archived from the original on 10 May 2017. 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.
- ↑ 4.0 4.1 OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis follicularis, atrichia and photophobia Archived 2010-03-08 at the Wayback Machine
- ↑ 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? Archived 2021-08-28 at the Wayback Machine, European Journal of Dermatology. Volume 10, Number 2, 98-102, March 2000
External links
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