Pachyonychia Congenita (PC) is a rare genetic disorder that affects the nails and skin. It is characterized by the presence of thickened nails (pachyonychia) and various skin abnormalities. PC is caused by mutations in specific genes that are involved in the production of keratin, a protein that provides strength and structure to the nails, skin, and other tissues.
Individuals with PC may experience symptoms such as abnormally thickened or curved nails, painful calluses on the soles of the feet, blistering and cysts on the palms and soles, and thickened skin on the knees and elbows. These symptoms can vary in severity and may affect daily activities and quality of life.
There are several subtypes of PC, each with its own set of symptoms and characteristics. Diagnosis is typically made through clinical evaluation, genetic testing, and examination of nail and skin samples. While there is currently no cure for PC, treatment focuses on managing symptoms and improving quality of life. This may involve regular nail and skin care, pain management, and the use of orthopedic devices to alleviate discomfort.