Pachyonychia Congenita (PC) is a rare genetic disorder that affects the skin and nails. It is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the condition. There are several types of PC, categorized based on the specific gene mutation involved. Type 4 Pachyonychia Congenita, also known as PC-K6b, is caused by mutations in the KRT6B gene. This condition is characterized by a variety of symptoms that primarily affect the skin, nails, and sometimes the mouth and teeth. Understanding these symptoms is crucial for early diagnosis and management of the condition.
Symptoms of KRT6B Gene Pachyonychia Congenita Type 4
The symptoms of PC-K6b can vary from one individual to another but typically include the following:
- Thickened Nails (Nail Dystrophy): One of the hallmark symptoms of PC-K6b is the thickening of the nails on both the hands and feet. This can lead to discomfort and difficulty in trimming the nails.
- Painful Calluses and Blisters: Affected individuals often develop painful calluses and blisters on the soles of their feet (plantar keratoderma), which can significantly impact mobility and quality of life.
- Oral Leukokeratosis: White patches may appear on the tongue and inside the cheeks. Although not painful, these can sometimes be mistaken for other conditions.
- Follicular Keratosis: This involves the development of small, bump-like lesions around hair follicles, primarily on the elbows and knees.
- Cysts: Some individuals may develop cysts in various parts of the body, including the scalp, back, and groin area.
It’s important to note that the severity and combination of symptoms can vary widely among individuals with PC-K6b. Early diagnosis through genetic testing can help manage the symptoms more effectively and improve the quality of life for those affected.
Genetic Testing for KRT6B Gene Pachyonychia Congenita Type 4
Genetic testing for PC-K6b involves analyzing the KRT6B gene for mutations that are known to cause the condition. This test is crucial for confirming the diagnosis, especially in cases where the clinical symptoms are not definitive. Additionally, genetic testing can provide valuable information for family planning and the assessment of risk for future offspring.
DNA Labs UAE offers a comprehensive KRT6B Gene Pachyonychia Congenita Type 4 Genetic Test designed to accurately diagnose this condition. The test is performed using a simple blood sample and utilizes advanced genetic sequencing techniques to detect mutations in the KRT6B gene.
Test Cost
The cost of the KRT6B Gene Pachyonychia Congenita Type 4 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of an accurate diagnosis cannot be overstated. It enables affected individuals and their families to make informed decisions about management and treatment options, potentially reducing the long-term impact of the condition.
Conclusion
Pachyonychia Congenita Type 4, caused by mutations in the KRT6B gene, is a condition with a range of symptoms that can significantly affect an individual’s quality of life. Early and accurate diagnosis through genetic testing is essential for effective management and treatment. DNA Labs UAE provides a reliable genetic test for PC-K6b, offering hope and support to those affected by this rare condition. For more information or to schedule a test, visit https://dnalabsuae.com.
