Epidermolysis bullosa is a genetic disease that causes fragile skin and blisters. It has three types, with varying severity and symptoms, and no known cure. Treatment focuses on wound care and improving quality of life.
Epidermolysis bullosa (EB) is the medical name given to a genetic disease that makes the skin 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 blisters. This condition is hereditary and can come from one or both parents. Two healthy parents can pass two mutated genes to a child, one from each parent, or an affected parent can pass one mutated gene to the child.
Epidermolysis bullosa has been called the disease of butterflies, 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 show up until later in life.
The symptoms of epidermolysis bullosa are blistering and extremely fragile skin. Although there are three different types of the disorder, these main symptoms remain the same. In some types of the disorder, there may also be irregularities in the inner lining of the skin and the cornea of the eye.
The most common form of epidermolysis bullosa is EB simplex. Almost all cases of EB simplex have an inherited cause. Skin fragility most commonly affects the extremities, such as the hands and feet. Blistering can occur anywhere on the skin from friction, such as that caused by wrist cuffs or a bra. Sufferers of this condition also experience intensified symptoms when exposed to heat.
Nearly 10% of people with 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, scarring of the skin will reduce healing. Due to severe blisters in the mouth, eating is very difficult. Complications that can result from severe dystrophic EB include skin cancers.
There is currently no known cure for this condition. However, there are treatments for more severe forms of the disorder that can help improve the sufferer’s quality of life. Most other treatments take the form of wound dressing to promote healing and prevent further scarring.
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