Ichthyosis follicularis with alopecia and photophobia syndrome
(Redirected from Ichthyosis follicularis)
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]
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]
Classification | |
---|---|
External resources |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD