Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic condition that affects the skin, hair, and eyes. The syndrome is caused by mutations in the MBTPS2 gene. Individuals with this condition often experience a range of symptoms that can significantly impact their quality of life. DNA Labs UAE offers a comprehensive genetic test for the MBTPS2 gene to help diagnose this condition. The cost of the test is 3200 AED. For more information or to schedule a test, please visit our website at DNA Labs UAE.
Symptoms of MBTPS2 Gene Ichthyosis Follicularis Atricia and Photophobia Syndrome
The symptoms of IFAP syndrome can vary widely among individuals but typically include a combination of skin, hair, and eye-related issues. Understanding these symptoms is crucial for early diagnosis and management of the condition.
Skin Symptoms
One of the hallmark symptoms of IFAP syndrome is ichthyosis follicularis. This condition is characterized by widespread follicular hyperkeratosis, where the skin develops small, scaly bumps, particularly around hair follicles. The skin may also be dry and prone to irritation. In some cases, individuals may experience blisters and skin infections due to the compromised barrier function of their skin.
Hair Symptoms
Atrichia, or the absence of hair, is another defining feature of IFAP syndrome. Individuals may be born with normal hair, but it often falls out within the first few months of life and does not regrow. This can affect scalp hair, eyelashes, eyebrows, and body hair, leading to complete or near-complete hairlessness.
Eye Symptoms
Photophobia, or sensitivity to light, is a common symptom in individuals with IFAP syndrome. This can range from mild discomfort in bright environments to severe pain and the need to avoid light altogether. Some individuals may also experience dry eyes, corneal lesions, and other ocular complications that can affect vision.
Additional Symptoms
In addition to the primary symptoms, individuals with IFAP syndrome may also experience a range of other issues, including:
- Delayed development and intellectual disability in some cases
- Respiratory problems
- Hearing loss
- Nail abnormalities
- Infections due to compromised skin barrier
It’s important to note that the severity and combination of symptoms can vary greatly among individuals with IFAP syndrome.
Genetic Test for IFAP Syndrome
DNA Labs UAE offers a genetic test for the MBTPS2 gene to help diagnose IFAP syndrome. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, and analyzing it for mutations in the MBTPS2 gene. The cost of the test is 3200 AED. A positive test result can confirm the diagnosis and help guide management and treatment strategies for the individual and their family.
Early diagnosis and intervention are crucial for managing the symptoms of IFAP syndrome and improving the quality of life for those affected. If you suspect that you or a loved one may have IFAP syndrome, please visit DNA Labs UAE for more information on genetic testing and to schedule a test.
