Is Pachyonychia Congenita hereditary?

Pachyonychia Congenita (PC) is a rare genetic disorder that affects the nails and skin. It is characterized by thickened nails (pachyonychia) and various other symptoms such as painful calluses on the soles of the feet and palms of the hands, blistering of the skin, and cysts on the body.

PC is indeed hereditary, meaning it is passed down from parents to their children through genetic mutations. It is caused by mutations in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. These genes provide instructions for making proteins that are essential for the normal development and maintenance of the skin and nails.

The inheritance pattern of PC depends on the specific gene involved. It can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant inheritance means that an affected individual has a 50% chance of passing the mutated gene to each of their children. In autosomal recessive inheritance, both parents must carry a copy of the mutated gene for their child to be affected.

It is important for individuals with PC or a family history of the condition to consult with a genetic counselor or healthcare professional for a comprehensive evaluation and genetic testing. Genetic testing can help confirm the diagnosis and provide information about the specific gene mutation involved, which can be useful for family planning and understanding the risk of passing the condition to future generations.