Pachyonychia congenita is a genetic skin disorder that affects keratin production, causing thick, misshapen nails, blisters, and calluses. There is no cure, but gene silencing is being researched. The condition can be inherited or occur spontaneously, and symptoms vary in severity. Treatment involves managing outbreaks and regular nail and skin care. Genetic counseling and assisted reproduction can help prevent passing the condition to children.
Pachyonychia congenita is a genetic skin disorder that involves changes in the genes that produce keratin, a key protein in skin, hair and nails. Patients with this condition have symptoms such as thick, misshapen nails as well as blisters and calluses on the skin, particularly on the hands and feet. Treatment involves managing outbreaks of skin problems to keep the patient comfortable. As of 2011, no cure for pachyonychia congenita was available, but researchers were working on a technique called gene silencing, in which the malfunctioning gene could be turned off to prevent its expression.
People can develop this condition in one of two ways. The first is through inheritance. Pachyonychia congenita is dominant, and if a parent has it, a child can also express the condition. 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 two types, depending on the severity.
In more severe cases of pachyonychia congenita type I, patients may experience a variety of symptoms including natal teeth, where teeth are present at birth. White plaques may appear in the mouth, along with cracks and scales around the edges of the mouth. Excessive sweating, especially in the hands and feet, is another symptom. Thickened nails may develop unusual growth patterns, and the patient’s skin may erupt with blisters, scales, and calloused patches. Type II patients have less severe symptoms.
Several techniques may be helpful in managing pachyonychia congenita. Regularly trimming and filing nails can help them maintain a more normal shape, keeping patients comfortable. If the nails are left untreated, the patient may find it difficult to complete daily tasks and may also attract unwanted attention, as the nails may be curved, very thick and scaly. The skin can be treated with polishing 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 congenital pachyonychia sores can make walking difficult.
People with the condition who are concerned about passing it on to their children can discuss options with a genetic counselor. It is possible for children to inherit a less severe form, depending on the blend of genes involved, or for a child not to inherit the condition at all. The use of assisted reproduction and genetic screening can allow parents to identify harmful genes in embryos before implantation by selecting healthy embryos and not using others.
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