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Definition

EB is a group of inherited conditions in which there is blistering and breakdown of the skin and mucous membranes following minor friction or trauma. These may occur anywhere on the body but most commonly appear at 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, and 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

Epidermolysis bullosa can be inherited both in a dominant (the patient has a 50:50 chance of getting it from a single affected parent) or recessive pattern. The inherited defect causes a weakening in various parts of the skin structure, resulting in skin that is more fragile and susceptible to internal splitting and blister formation.

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

Symptoms depend on the type of epidermolysis bullosa, but can include:

  • 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, causing feeding difficulty or swallowing difficulty
  • Blistering around the eyes and nose
  • A hoarse cry, cough, or other respiratory difficulties
  • Dental abnormalities such as tooth decay
  • Alopecia (hair loss)
  • Tiny white bumps or pimples

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.

If your esophagus has narrowed because of scarring, your doctor may suggest surgery to enlarge the esophagus so that food can travel from your mouth to your stomach.  If you are unable to eat, your doctor may suggest a feeding tube so that food can be delivered directly to your stomach.  If blisters have caused your fingers or toes to fuse together, your doctor may suggest surgery to separate them.

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