Epidermolysis Bullosa

Definition

EB is a group of blistering skin conditions.These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. Blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.

It is an inherited disease. Every year it affects less than 10,000 children and adults in the United States. According to the latest figures, most of these patients suffer from the simplex form of EB, about 600 have the Junctional form, 600 have RDEB, 840 with DDEB and 320 with some unclassified form of EB.

There are four main types of epidermolysis bullosa are found. These ares-

• Epidermolysis bullosa simplex
• Junctional epidermolysis bullosa
• Dystrophic epidermolysis bullosa
• Hemidesmosomal epidermolysis bullosa

Causes

EB usually occurs at birth or shortly after. Males and females are equally affected. Occasionally EB may be mild enough at birth not to be apparent and it is not until the child is older or reaches adulthood before it is detected.

Epidermolysis bullosa (EB) is a genetic disorder. All human beings carry two genes for each of our characteristics e.g. eye colour, height, and skin colour, one coming from each parent.

The blistering, which is the most common symptom, may cause problems ranging from minor disruption to life-threatening illness. For example, in the commonest form EB simplex, blistering is usually limited to the hands and feet, but it may occur all over the body.

Symptoms

In some types the internal linings of the body can be affected, as well as the cornea of the eye. Healing with scarring seen in some forms of EB can also lead to worsening disability.

Some common symptoms are by which people can be affected are-

• a family history of epidermolysis bullosa or an affected parent
• blistering of the skin as a result of minor trauma or temperature change
• blistering present at birth
• nail loss or deformed nails
• blistering in or around the mouth and throat with feeding difficulty or swallowing difficulty

Treatment

The doctor will usually perform a skin biopsy to determine what illness the patient has.With a skin biopsy, the doctor will examine a sample of the patient's skin, often from a fresh blister, and study it under a high-powered microscope to determine where in the skin the structural defects are occurring.

Tape should not be applied directly to skin and bandages should be soaked off. Infection is a major concern, so a topical antibiotic, such as bacitracin, mupirocin, or sulfadiazine, should be routinely applied.