Pachyonychia Congenita (PC), a genetic disorder affecting the skin, nails, and mucous membranes. Many people live with this condition in South Africa. Pachyonychia Congenita is caused by changes in one of five different genes and these gene alterations affects keratin protein production that comprise our skin, nails, and hair.
PC symptoms typically appear within the first months or years of life, can differ from person to person and change over time.
Pachyonychia Congenita is due to a change in one of five genes that affect the keratin proteins in the skin, nails, and hair. These mutations cause the body to make keratin proteins that don’t work right. This can lead to several skin and nail difficulties.
The disease passes down in a way called “autosomal dominant.” This implies that just one copy of the gene mutation is enough for the disease to show up.
Since Pachyonychia Congenita is a genetic condition, family history is the only known potential risk. For example, people with one parent with PC have a 50% chance of getting the mutated gene.
PC can be hard to diagnose because its symptoms are similar to other skin problems. A dermatologist can diagnose this disease by looking at your skin along with genetic testing.
The gene mutation causing Pachyonychia Congenita creates pain, discomfort, difficulties walking and other normal activities. The condition can also affect mental health, especially if they feel alone or judged.
Pachyonychia Congenita is a condition that does not have medication to cure it. Therefore, the treatment emphasises on controlling symptoms. This could mean:
Pain relief -Calluses and blisters can hurt, but you can eliminate the pain with over-the-counter pain relievers or topical treatments.
Care for feet and nails – Taking care of your feet and nails regularly can help prevent painful calluses and nails that are too thick.
Dental care -Seeing the dentist regularly will help manage dental issues.
Help with your mind -People with PC might need help with their mental health to deal with how this condition makes them feel.
Since Pachyonychia Congenita is a genetic disorder, it is not possible to prevent the health condition. However, people with a history of the disorder in their families may be able to seek genetic counselling to assist them in making informed decisions about how many children they want to have.