Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. Among the various types, Type 2, also known as Jackson-Lawler type, is distinguished by its genetic cause, mutations in the KRT17 gene. Recognizing the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a specialized genetic test for this purpose, the KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test, priced at 4400 AED. For more information, please visit DNA Labs UAE.
Symptoms of Pachyonychia Congenita Type 2
Pachyonychia Congenita Type 2 manifests through a variety of symptoms, significantly impacting the quality of life of affected individuals. Early detection and management are essential in alleviating the condition’s severity and improving patient outcomes. The hallmark symptoms include:
- Nail Abnormalities: Thickening of the nails (hyperkeratosis) is a primary indicator. Nails may also appear discolored, lifting from the nail bed, causing pain and discomfort.
- Plantar Keratoderma: The development of painful calluses and blisters on the soles of the feet, which can impair walking and standing.
- Oral Leukokeratosis: White patches or plaques inside the mouth, which are generally not painful but can be a source of discomfort.
- Follicular Keratosis: The appearance of small, bump-like lesions around hair follicles, primarily on the elbows and knees.
- Cysts: Individuals may develop cysts, including steatocystoma and epidermoid cysts, which can become inflamed and painful.
These symptoms can vary significantly in severity among affected individuals and may present challenges in daily activities and overall well-being.
Importance of Genetic Testing for Pachyonychia Congenita Type 2
Genetic testing plays a pivotal role in the accurate diagnosis of Pachyonychia Congenita Type 2. By identifying mutations in the KRT17 gene, healthcare providers can confirm the diagnosis, allowing for targeted management strategies. The KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test offered by DNA Labs UAE is a valuable tool in this diagnostic process. At a cost of 4400 AED, this test provides individuals and their families with crucial information for managing the condition.
Conclusion
Pachyonychia Congenita Type 2 is a challenging condition, but with early diagnosis and appropriate management, individuals can lead fulfilling lives. The symptoms of PC Type 2 are diverse and can significantly impact physical and emotional well-being. The KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test offered by DNA Labs UAE represents a critical step in the journey towards a definitive diagnosis and personalized care plan. For more information and to access this test, visit DNA Labs UAE.
