Ichthyosis congenital autosomal recessive type 2, also known as ARCI2, is a rare genetic skin disorder caused by mutations in the ALOX12B gene. This condition is characterized by the appearance of scaly skin shortly after birth. The scales are usually large, dark, and plate-like, covering most parts of the body. It is a condition that not only affects the physical well-being of an individual but also has profound psychological and social implications. Understanding the symptoms and undergoing genetic testing for the ALOX12B gene can be crucial in managing and treating this condition effectively.
Symptoms of ALOX12B Gene Ichthyosis Congenital Autosomal Recessive Type 2
The symptoms of this condition can vary significantly among affected individuals but typically include:
- Severe Scaling of the Skin: The scales are often dark and may cover the entire body.
- Ectropion: This is a condition where the eyelids turn outward, exposing the inner eyelid, which can lead to complications such as dry eyes and infections.
- Eclabium: Similar to ectropion, eclabium affects the lips, causing them to turn outwards and appear enlarged or distorted.
- Palmar and Plantar Hyperkeratosis: This is the thickening of the skin on the palms of the hands and the soles of the feet.
- Reduced Sweating: Due to the thickened skin, individuals with this condition may sweat less than usual, which can lead to overheating.
- Secondary Skin Infections: The abnormal skin barrier makes it easier for bacteria and other pathogens to enter the body, leading to increased susceptibility to infections.
Importance of Genetic Testing for ALOX12B Gene
Genetic testing for the ALOX12B gene is vital for several reasons. Firstly, it can provide a definitive diagnosis, helping to distinguish ARCI2 from other types of ichthyosis and skin disorders. Secondly, it allows for better management of the condition, as treatments can be tailored to the individual’s specific needs. Lastly, it offers the opportunity for genetic counseling for families, providing them with information on the inheritance pattern, risks to other family members, and implications for future pregnancies.
ALOX12B Gene Ichthyosis Congenital Autosomal Recessive Type 2 Genetic Test Cost
The cost of the genetic test for the ALOX12B gene at DNA Labs UAE is 4400 AED. This test is a crucial step in confirming the diagnosis and can be a gateway to personalized treatment plans and management strategies for those affected by this condition.
Conclusion
ARCI2 caused by mutations in the ALOX12B gene is a challenging condition, but early diagnosis and appropriate management can significantly improve the quality of life for those affected. The genetic test offered by DNA Labs UAE provides a reliable method for diagnosing this condition, offering hope and support to individuals and families grappling with the implications of this rare genetic disorder.
For more information on the ALOX12B gene ichthyosis congenital autosomal recessive type 2 genetic test, please visit DNA Labs UAE.
