IFAP syndrome
IFAP Syndrome is a rare genetic disorder characterized by the triad of Ichthyosis Follicularis, Atrichia, and Photophobia. It is also known as Ichthyosis Follicularis with Atrichia and Photophobia Syndrome.
Overview[edit | edit source]
IFAP Syndrome is a rare X-linked genetic disorder that primarily affects the skin, hair, and eyes. The syndrome is characterized by three main features: Ichthyosis Follicularis, Atrichia, and Photophobia.
Symptoms[edit | edit source]
The symptoms of IFAP Syndrome typically appear at birth or shortly thereafter. The most common symptoms include:
- Ichthyosis Follicularis: This is a skin condition characterized by the presence of small, cone-shaped bumps on the skin's surface. These bumps are caused by an abnormal accumulation of keratin in the hair follicles.
- Atrichia: This is a condition characterized by the absence of hair on the scalp and body. In individuals with IFAP Syndrome, the hair loss is typically complete and permanent.
- Photophobia: This is a condition characterized by an extreme sensitivity to light. Individuals with IFAP Syndrome often experience discomfort or pain in bright light.
Causes[edit | edit source]
IFAP Syndrome is caused by mutations in the MBTPS2 gene. This gene provides instructions for making an enzyme that is involved in the regulation of cholesterol and fatty acid metabolism. Mutations in the MBTPS2 gene disrupt the normal function of this enzyme, leading to the characteristic features of IFAP Syndrome.
Diagnosis[edit | edit source]
The diagnosis of IFAP Syndrome is typically based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the MBTPS2 gene.
Treatment[edit | edit source]
There is currently no cure for IFAP Syndrome. Treatment is symptomatic and supportive, and may include measures to manage skin symptoms, protect the eyes from light, and address any other health problems that may occur.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
IFAP syndrome is a rare disease.
| IFAP syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. 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
