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

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

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

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

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

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

• Ichthyosis
• Atrichia
• Photophobia
• MBTPS2

NIH genetic and rare disease info

• NIH info on IFAP syndrome

IFAP syndrome is a rare disease.

IFAP syndrome Resources
Need Help Finding a Doctor? WikiMD's DocFinder can help find general and specialist physicians.	Latest articles Most recent articles Ongoing trials.