Pachyonychia congenita is a genetic skin disorder involving changes to the genes that produce keratin, a key protein in skin, hair, and nails. Patients with this condition have symptoms like thick, misshapen nails, as well as blisters and calluses on the skin, particularly on the hands and feet. Treatment involves managing the outbreaks of skin problems to keep the patient comfortable. As of 2011, no cure was available for pachyonychia congenita, but researchers were working on a technique called gene silencing, where the malfunctioning gene could be turned off to stop it from expressing.
People can develop this condition in one of two ways. The first is through inheritance. Pachyonychia congenita is dominant, and if one parent has it, a child may express the condition as well. It is also possible for spontaneous mutations to occur, causing the condition to appear in a family for the first time. The patient’s condition can be divided into one of two types, depending on severity.
In the most severe pachyonychia congenita type I cases, patients can experience a variety of symptoms including natal teeth, where teeth are present at birth. White plaques may appear in the mouth, along with cracking and scaling around the edges of the mouth. Excessive sweating, especially in the hands and feet, is another symptom. The thickened nails can develop unusual growth patterns, and the patient’s skin may erupt with blisters, scales, and callused patches. Type II patients have less severe symptoms.
Several techniques can be helpful for managing pachyonychia congenita. Regularly trimming and filing the nails can help them retain a more normal shape, keeping patients comfortable. If the nails are not cared for, the patient may have trouble completing daily tasks, and can also attract unwanted attention, as the nails may be curved, very thick, and scaly in appearance. The skin can be treated with buffing tools, as well as moisturizers and other preparations to smooth the skin and even out its texture. This is especially important on the feet, as pachyonychia congenita sores can make it difficult to walk.
People with this condition who are concerned about passing it on to children can discuss options with a genetic counselor. It is possible that children may inherit a less severe form, depending on the mixture of genes involved, or that a child will not inherit the condition at all. Use of assisted reproduction and genetic screening can allow parents to identify deleterious genes in embryos before implantation, selecting healthy embryos and not using the others.