Ichthyosis follicularis with alopecia and photophobia syndrome
IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.[1]:564 It is extremely rare: there were only 10 known cases (all male) in 1998.[2]
Symptoms[edit | edit source]
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.[2]
Genetics[edit | edit source]
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.[2]
Diagnosis[edit | edit source]
Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.[3]
Management[edit | edit source]
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (July 2017) |
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.
See also[edit | edit source]
References[edit | edit source]
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ 2.0 2.1 2.2 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
External links[edit | edit source]
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