Pachyonychia Congenita

This genetic disorder is very unique and unusual, originating from mutations in the genes KRT6A, KRT6B, KRT16, and KRT17, which supply the directions in producing keratin proteins. Keratin proteins are “tough, fibrous” proteins that give skin, hair, and nail tissues the durability and sturdiness they need. Therefore, having these mutations results in the modification of the shape of a keratin protein, which disables the proteins from building firm networks inside of the cells. These networks are essential because, without them, skin cells would be delicate and easily broken, which makes the skin not as unsusceptible to friction or slight trauma. As for the nails and hair, deformed keratins will disturb the activities and growth of cells in the nails and hair follicles. This disorder is inherited in an autosomal dominant pattern. In about “half of all cases”, an “affected” person gets the mutation from just one diseased parent, while the other half of cases are produced from brand new mutation and may occur in people who have no family history of the disorder at all.

Symptoms and Diagnosis

A sure symptom of PC would be the thickened nails. Another noticeable sign would be hurting blisters and plump calluses on soles of the feet. Other symptoms would include white swelling of the tongue, a collection of cysts, and “blisters and calluses on the palms of the hands”. However, symptoms of children are different than those in adults. Symptoms that occur in children would include lumps around hair follicles and a very raspy or croaky voice. Some symptoms are shown in the picture to the left.

As for diagnosis, there are two types of PC: type 1 and type 2. The two forms of PC can be differentiated by faintly different symptoms. However, while just looking at the symptoms can be unreliable because they can fluctuate between the two types, genetic testing can verify if a person has type 1 or type 2 since different mutated keratin genes code of one type of the other (KRT6A or KRT16 codes for type 1 and KRT6B or KRT17 code for type 2).

Treatments, Life Expectancy, and Prevalence

Currently there is no treatment for Pachyonychia Congenita. However treatments are being worked on. The brand new technology incorporating “gene silencing” has the potential to be a cure for PC in the future. On the other hand, drug therapies are in short supply. People trim and file their nails to avoid infections and soaking and massaging of the hands and feet “clean off blistered skin”. Increasingly, because of the constant pain that comes with PC, some keep the sensitive areas of the skin damp and cool for relief and canes or “special shoes” can lessen the stress on the feet (as putting just a little bit of pressure, even just when walking, on those tender areas of the feet tear skin cells).

The prevalence of PC is not known, but it seems to be remarkable rare. It is estimated that there are a few thousand people in the world living with PC. Fortunately, though, Pachyonychia Congenita does not influence lifespan.