IFAP syndrome
IFAP Syndrome
IFAP Syndrome (pronounced as I-F-A-P), also known as Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome, is a rare genetic disorder characterized by a triad of symptoms: ichthyosis follicularis, alopecia, and photophobia.
Pronunciation
- Ichthyosis Follicularis: /ɪkˌθaɪəˈsoʊsɪs fəˌlɪkjʊˈlɛərɪs/
- Alopecia: /ˌæləˈpiːʃə/
- Photophobia: /ˌfoʊtoʊˈfoʊbiə/
Etymology
The term 'IFAP' is an acronym derived from the initial letters of the three main symptoms of the syndrome: Ichthyosis Follicularis, Alopecia, and Photophobia.
Definition
IFAP Syndrome is a rare X-linked genetic disorder. It is characterized by the triad of Ichthyosis Follicularis, Alopecia (hair loss), and Photophobia (sensitivity to light). The syndrome is caused by mutations in the MBTPS2 gene.
Symptoms
The primary symptoms of IFAP Syndrome include:
- Ichthyosis Follicularis: This is a skin condition characterized by the presence of small, cone-shaped bumps on the skin surface.
- Alopecia: This refers to hair loss, which can occur in patches or affect the entire scalp.
- Photophobia: This is an abnormal sensitivity to light, causing discomfort or pain in the eyes when exposed to light.
Related Terms
- MBTPS2: This is the gene that, when mutated, causes IFAP Syndrome.
- X-linked genetic disorder: This refers to a condition caused by a mutation in a gene on the X chromosome.
Treatment
There is currently no cure for IFAP Syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the condition.
External links
- Medical encyclopedia article on IFAP syndrome
- Wikipedia's article - IFAP syndrome
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski