Epidermolysis bullosa junctional Herlitz type (JEB-Herlitz) is a severe genetic condition that affects the skin and mucous membranes, leading to blister formation at the slightest friction. This condition is caused by mutations in several genes, including LAMA3. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a genetic test for the LAMA3 gene mutation, providing essential information for affected families.
Symptoms of LAMA3 Gene Epidermolysis Bullosa Junctional Herlitz Type
Individuals with JEB-Herlitz type exhibit a range of symptoms, primarily affecting the skin. These symptoms can vary in severity but typically include:
- Blistering of the Skin and Mucous Membranes: From birth or early infancy, affected individuals may develop blisters on the skin and mucous membranes, such as the mouth and eyes, in response to minor mechanical friction or trauma.
- Respiratory Issues: Blisters and erosions can also affect the respiratory tract, leading to breathing difficulties and an increased risk of respiratory infections.
- Nail Abnormalities and Hair Loss: Nail dystrophy, including loss of nails, and scarring alopecia (hair loss) are common among individuals with JEB-Herlitz type.
- Dental Anomalies: Tooth enamel is often poorly developed, leading to an increased risk of dental cavities and tooth loss.
- Nutritional Challenges: Blistering in the mouth and esophagus can make eating painful and difficult, potentially leading to nutritional deficiencies and failure to thrive in infants.
- Delayed Wound Healing: Wounds may heal slowly and with significant scarring, sometimes leading to the fusion of fingers or toes or contractures.
Due to the severity of the condition, early and accurate diagnosis is critical for managing symptoms and improving the quality of life for affected individuals.
LAMA3 Gene Epidermolysis Bullosa Junctional Herlitz Type Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for the LAMA3 gene, helping to diagnose JEB-Herlitz type. This test is crucial for confirming the diagnosis, understanding the risk of passing the condition to future generations, and making informed decisions about care and management. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the LAMA3 gene.
For more information about the LAMA3 gene epidermolysis bullosa junctional Herlitz type genetic test and to schedule a test, please visit https://dnalabsuae.com/tests/lama3-gene-epidermolysis-bullosa-junctional-herlitz-type-genetic-test/.
Early diagnosis through genetic testing can significantly impact the management of JEB-Herlitz type, offering affected families the guidance and support they need. DNA Labs UAE is committed to providing accurate, timely, and compassionate testing services for families facing the challenges of genetic conditions like JEB-Herlitz type.
