Epidermolysis Bullosa Simplex (EBS) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes in response to minor injury or friction. Among the various types of EBS, the Autosomal Recessive Type 2, also known as the severe generalized type, is caused by mutations in the DST gene. This particular type is less common and presents more severe symptoms compared to other forms of EBS. In this article, we will delve into the symptoms associated with DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 and discuss the genetic test available at DNA Labs UAE, which is priced at 4400 AED.
Symptoms of DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2
Individuals with this condition typically exhibit symptoms from birth. The hallmark symptom is the formation of blisters on the skin following minor trauma or friction. However, the symptoms can vary significantly in severity among affected individuals. The following are the primary symptoms associated with this condition:
- Widespread blistering that occurs from birth or early infancy
- Blisters may appear on the skin in response to minor trauma or friction, especially on the hands, feet, knees, and elbows
- Presence of milia (tiny white bumps) within healed blisters
- Nail dystrophy or nail loss
- Thickened skin on the palms and soles (palmoplantar keratoderma)
- Scarring from blisters, particularly on the hands and feet
- Oral mucosal involvement, leading to blisters and erosions in the mouth
- Possible dental abnormalities due to oral blistering and scarring
It is crucial for individuals showing these symptoms to undergo genetic testing to confirm the diagnosis of DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2. Early diagnosis can aid in managing symptoms and improving the quality of life for those affected.
Genetic Test for DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test specifically designed to diagnose DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2. This test is crucial for individuals presenting with symptoms suggestive of this condition or for families with a history of EBS. The test is priced at 4400 AED.
The genetic test involves analyzing the DST gene for mutations known to cause the condition. It is a straightforward process that requires a sample of the individual’s blood or saliva. The test is highly accurate and can provide valuable information for the management of the condition, including guidance on care and treatment options.
For more information about the DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 Genetic Test, or to schedule a test, please visit https://dnalabsuae.com/tests/dst-gene-epidermolysis-bullosa-simplex-autosomal-recessive-type-2-genetic-test/. Our team of experts is dedicated to providing accurate diagnoses and support for individuals and families affected by genetic conditions.
Understanding the symptoms and undergoing timely genetic testing can significantly impact the management and outcome of Epidermolysis Bullosa Simplex. If you or a loved one are experiencing symptoms associated with this condition, consider reaching out to DNA Labs UAE for comprehensive testing and support.
