Epidermolysis bullosa simplex (EBS) Koebner type is a genetic condition characterized by the fragility of the skin that results in blistering and erosions from minor mechanical trauma. This condition is specifically associated with mutations in the KRT14 gene, which encodes for keratin 14, a protein essential for the structural integrity of the skin. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a genetic test for the KRT14 gene to help identify individuals affected by Epidermolysis bullosa simplex Koebner type. This test is priced at 4400 AED. For more information, please visit DNA Labs UAE.
Symptoms of KRT14 Gene Epidermolysis Bullosa Simplex Koebner Type
The symptoms of Epidermolysis bullosa simplex Koebner type typically manifest at birth or during early childhood and can vary significantly in severity among affected individuals. The primary symptom is the development of blisters and sores on the skin in response to minor injuries, heat, or friction. However, there are several other signs and symptoms associated with this condition, which are detailed below.
- Blistering of the Skin: The hallmark symptom of EBS Koebner type is blister formation on the hands, feet, elbows, and knees, areas that are more prone to trauma. These blisters can also occur on the face and trunk in some cases.
- Milia Formation: After the blisters heal, small white bumps called milia may form at the site of the healed blisters.
- Nail Dystrophy: Some individuals may experience abnormalities in nail growth, leading to thickened or misshapen nails.
- Hyperkeratosis: Repeated blistering and healing can lead to hyperkeratosis, especially on the palms of the hands and soles of the feet, making the skin thick and calloused.
- Oral Mucosal Involvement: In some cases, blistering can also affect the mucous membranes, such as the inside of the mouth, leading to difficulty in eating and swallowing.
It is important to note that while these symptoms can be indicative of Epidermolysis bullosa simplex Koebner type, they can also be associated with other forms of epidermolysis bullosa or different conditions altogether. Therefore, genetic testing is essential for an accurate diagnosis.
KRT14 Gene Epidermolysis Bullosa Simplex Koebner Type Genetic Test
The genetic test for the KRT14 gene offered by DNA Labs UAE is a critical tool in the diagnosis of Epidermolysis bullosa simplex Koebner type. This test analyzes the KRT14 gene for mutations known to cause the condition. A positive test result can confirm the diagnosis, enabling affected individuals and their families to seek appropriate management and support. The test is priced at 4400 AED and can provide valuable information for genetic counseling and understanding the risk of passing the condition to future generations.
For those who suspect they or their family members may be affected by Epidermolysis bullosa simplex Koebner type, it is important to discuss the possibility of genetic testing with a healthcare provider. Early diagnosis and intervention can significantly improve the quality of life for those living with this condition.
For more information about the KRT14 gene Epidermolysis bullosa simplex Koebner type genetic test and to schedule a test, please visit DNA Labs UAE.
