What is Pachyonychia Congenita?
Pachyonychia Congenite is a genetic skin disorder involving changes in genes that produce keratin, key protein in the skin, hair and nails. Patients with this condition have symptoms such as strong, erroneous nails, as well as blisters and calluses on the skin, especially on the hands and feet. Treatment involves mastering the focus of skin problems to keep the patient comfortable. Since 2011, no treatment has been available for Pachyonychia, but scientists have been working on techniques called the silence of the gene where the non -functional gene could be turned off to avoid expression.
People can develop this situation in one of two ways. The first is through an inheritance. Pachyonychia Congenita is dominant, and if one of the parents has it, the child can also express the condition. It is also possible for spontaneous mutations to occur, causing the condition to appear in the family for the first time. The patient's condition can be divided into one of two types, depending on the detachment.
In the most serious cases of Pachyonychia Congenity type I can PACaces experience a number 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. Another symptom is excessive sweating, especially in hands and legs. Dropped nails can develop unusual growth patterns and the patient's skin can explode blisters, scales and patches. Patients of type II have less severe symptoms.
Several techniques can be useful for Pachyonychia Congenite. Regular trim and nail administration can help them maintain normal shape and maintain patients comfortable. If they don't care about the nails, the patient may have difficulty completing daily tasks and can also attract undesirable attention because the nails can be curved, very strong and scaly appearance. The skin is treated with polishing tools, humidifiers and other preparations for smoothing the skin and even its texture. This is particularly important nAnd with the feet, because the ulcers Pachyonychia Congenite can make it difficult to walk.
People with this situation who are afraid to hand over children can discuss the possibilities with a genetic advisor. It is possible that children can inherit a less serious form depending on the mixture of the gene involved or that the child does not inherit the condition at all. The use of assisted reproduction and genetic screening can allow parents to identify harmful genes in embryos before implantation, select healthy embryos and not use others.