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Epidermolysis bullosa (EB) is the medical name given to a genetic disorder that causes the skin to become very fragile. This disorder is caused by a change in deoxyribonucleic acid (DNA). The genes that govern the way the skin grows become mutated, and the skin becomes very fragile and prone to blistering. This condition is inherited and can come from either one or both parents. Two healthy parents can pass on two mutated genes to a baby, one from each parent, or one parent who is affected can pass on a mutated gene to the child.
Epidermolysis bullosa has been called the butterfly disease, as the fragility of the sufferer's skin is similar to the fragile wings of a butterfly. The disorder can affect both sexes and will be present from birth. Symptoms may not present until later in life.
The symptoms of epidermolysis bullosa are blistering and extreme skin fragility. Although there are three different type of the disorder, these main symptoms remain the same. In some types of the disorder, there may also be irregularities in the internal linings of the skin and the cornea of the eye.
The most common form of epidermolysis bullosa is EB simplex. Nearly all cases of EB simplex have a hereditary cause. The skin fragility most commonly affects the extremities, such as the hands and feet. Blistering can occur anywhere on the skin as a result of friction, such as that caused by wristbands or a bra. Sufferers of this condition also experience heightened symptoms when exposed to heat.
Almost 10% of people who suffer from epidermolysis bullosa have the junctional form of the disorder. If this type of disorder is severe, skin loss is a major problem. Babies born with this condition have a life expectancy of two years.
The third type of epidermolysis bullosa is known as dystrophic EB. If this disorder is severe, then scarring of the skin will reduce healing. Due to severe blistering in the mouth, eating is very difficult. Complications that can arise from severe dystrophic EB include skin cancers.
There is currently no known cure for this condition. However, there are treatments for the more severe forms of the disorder that can help improve the sufferer's quality of life. Most other treatments take the form of dressing the wounds in order to aid in healing and to prevent further scarring.
Thank you. Very informative and to the point. I have DEB, and am very lucky to be able to go about life 'normally.' I know my limitations and accept what I can or can't do. I can't run - and this is normal for me. I can't do any contact sports - and this is normal for me. But, I focus on what I can do and so should you. Be positive. Focus on what you can do!
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