Which are the symptoms of Pachyonychia Congenita?

Pachyonychia Congenita (PC) is a rare genetic disorder that affects the nails, skin, and other parts of the body. It is characterized by the presence of thickened nails (pachyonychia) and various skin abnormalities. PC is caused by mutations in one of five genes, known as KRT6A, KRT6B, KRT6C, KRT16, and KRT17, which are responsible for producing keratin proteins.

The symptoms of Pachyonychia Congenita can vary widely between individuals, but the most common features include:

• Pachyonychia: Thickened nails are a hallmark of PC. The nails may be abnormally shaped, discolored, and prone to splitting or crumbling. They can cause pain and discomfort, making it difficult to perform daily activities.


• Plantar Keratoderma: This refers to the thickening of the skin on the soles of the feet. It can cause pain and difficulty walking.


• Palmar Keratoderma: Similar to plantar keratoderma, this involves thickened skin on the palms of the hands. It can lead to discomfort and reduced dexterity.


• Oral Leukokeratosis: White patches or thickened areas may develop on the tongue, gums, and inside the cheeks. These can be painful and affect speech and eating.


• Epidermal Cysts: Cysts filled with fluid may form on the skin. They can be tender and prone to infection.


• Hyperhidrosis: Excessive sweating, particularly on the palms and soles, is common in individuals with PC.


• Follicular Keratosis: Small, rough bumps may appear on the skin, particularly on the elbows, knees, and back.


• Hoarseness: Some individuals with PC may have a hoarse voice due to the involvement of the vocal cords.


• Dental Abnormalities: PC can cause dental problems such as tooth decay, gum disease, and misalignment of teeth.

It is important to note that the severity and combination of symptoms can vary significantly between individuals with PC. Some individuals may only experience mild nail and skin abnormalities, while others may have more severe manifestations affecting multiple body systems.

Diagnosis of Pachyonychia Congenita is typically based on clinical evaluation, family history, and genetic testing to identify the specific gene mutation. There is currently no cure for PC, and treatment focuses on managing the symptoms and improving quality of life. This may involve regular nail and skin care, pain management, physical therapy, and dental interventions.

Living with Pachyonychia Congenita can be challenging, both physically and emotionally. Support from healthcare professionals, genetic counselors, and patient support groups can be invaluable in managing the condition and providing guidance and resources for affected individuals and their families.