Epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma, is a rare genetic skin disorder characterized by blistering and thickening of the skin. This condition is caused by mutations in the KRT10 gene, which plays a crucial role in the structure and function of the keratin in the skin. Understanding the symptoms of this genetic condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the KRT10 gene to help identify this condition. The cost of the test is 4400 AED.
Symptoms of KRT10 Gene Epidermolytic Hyperkeratosis
Individuals with EHK typically exhibit symptoms at birth or in early infancy. The severity and presentation of symptoms can vary widely among affected individuals. Common symptoms include:
- Blistering: The skin may blister easily from minor trauma or friction, leading to painful wounds.
- Hyperkeratosis: Thickening of the skin, particularly on the palms of the hands and soles of the feet, is a hallmark of EHK.
- Erythroderma: Affected individuals may have red, inflamed skin over large areas of the body.
- Scaling: The skin may have a scaly appearance, particularly over joints and areas of frequent movement.
- Itching: The skin changes can be itchy, leading to discomfort and potential skin damage from scratching.
- Infections: The broken skin barrier can lead to an increased risk of skin infections.
It is important to note that the intensity of these symptoms can fluctuate over time, with periods of relative improvement and exacerbation.
Importance of Genetic Testing for EHK
Genetic testing for the KRT10 gene is crucial for confirming the diagnosis of EHK. This test can provide definitive evidence of the condition, enabling targeted management and care. Additionally, genetic testing can offer valuable information for family planning and understanding the risk of passing the condition to future generations.
Understanding the Test
The KRT10 gene epidermolytic hyperkeratosis genetic test offered by DNA Labs UAE is a sophisticated analysis designed to identify mutations in the KRT10 gene. The test involves collecting a small sample of blood or saliva, which is then analyzed in the laboratory for the presence of genetic mutations associated with EHK.
Cost of the Test
The cost of the KRT10 gene epidermolytic hyperkeratosis genetic test at DNA Labs UAE is 4400 AED. This cost includes the collection of the sample, laboratory analysis, and a comprehensive report of the findings.
Conclusion
Early diagnosis and management of epidermolytic hyperkeratosis are essential for improving the quality of life of affected individuals. The KRT10 gene test offered by DNA Labs UAE provides a valuable tool for diagnosing this rare genetic condition. For more information and to schedule a test, please visit https://dnalabsuae.com/tests/krt10-gene-epidermolytic-hyperkeratosis-genetic-test/.
