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A group of bullous disorders that can be inherited are called epidermolysis bullosa or EB. The main characteristic of this disorder is the formation of blisters that occurred as a reaction to mechanical trauma. The subtypes of this condition exist and they are based upon the morphology of the skin. Various studies that are being performed lead to the discovery of new tools that are being used for the identification of the condition. Thanks to these new tools, EB is now able to be diagnosed prenatally and preimplantationally. Nowadays, the experts have more understanding of the basement membrane zone and are able to come up with new treatment options that will cure the problem of skin fragility that affect epidermolysis bullosa patients.

Danger of Epidermolysis bullosa

A person who is diagnosed with epidermolysis bullosa has a greater chance of developing skin cancer. The main reason why that is so, is because the skin has become extremely fragile due to mutation in the keratin or collagen gene. Even the smallest mechanical friction or trauma will lead to the separation of the skin and the forming of blisters. Chronic damage that the skin suffers from may eventually lead to skin cancer in some patients. The two layers that form the skin are called the epidermis and the dermis. Dermis is the inner layer and epidermis is the outer layer of the skin. Those who have healthy skin have certain protein anchors between these two layers. These layers consist of collagen. The main function of these layers is not to allow these layers of the skin to move on their own and from one another. The situation is different in a person who suffers from EB as he or she does not have these protein anchors that are supposed to hold the two layers together. Due to that fact, any sort of action that leads to friction between the layers such as rubbing or pressure will cause the occurrence of blisters and sores. Both blisters and sores cause a lot of pain. According to the patients diagnosed with ED, these blisters hurt as much a third degree burn. “Butterfly children” is only of the terms that are being used for those who suffer from EB due to the fact that their skin is as fragile as the wings of a butterfly. Some of the other names that are being used for these patients include “cotton wool babies” and “Crystal skin children”.

Every person can be born with this condition and both men and women are affected by it equally.

The data on the symptoms of EB is a rich one as almost every person who suffers from the condition is studied in order for the cure to be discovered. Epidermolysis bullosa causes a lot of symptoms. Cough, a hoarse cry and certain other problems with breathing are the symptoms or respiratory difficulties. The main reason why respiratory problems occur is because a person is unable to inhale the needed amount of oxygen due to the fact that breathing itself causes a lot of discomfort.

Hair loss is another sign of EB that is seen quite often. The hair follicles are being displaced due to the blistering and that leads to alopecia, which is the medical term for hair loss. A lot of different options exist for this particular problem of EB. Prevention of scratching of the scalp is essential.

As areas around the nose and eyes are the areas that the children touch the most, blisters usually develop there. In some situations the blisters may become so big and cover the openings of the nostrils and eyes. Apart from eyes and nose area, blisters are most often seen around the mouth and throat. Breathing and feeding problems occur when the blisters appear in this area. In some situations, the throat may swell up so much that the child is unable to breathe and dies because of it.

Various dental abnormalities are also seen quite often in children who suffer from EB.

Deformed or even the lack of nails is another sign of epidermolysis bullosa. This deformity occurs due to the stubbing or fingers or toes.

What is the treatment for Epidermolysis bullosa

The latest studies paid most attention to the changing of mixture of keratins that are being made in the skin. Keratin genes all work as heterodimers and 54 known keratin genes are discovered up to this day. A lot of these genes have the same substantial structure and operate in the same way. However, they are specialized for cells types that are not the same and conditions under which the genes are usually being made. A certain drug is used for the alleviation of the symptoms of EB. The drug works by making the changes in balance of production toward a keratin gene that has not yet been touched.

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