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Epidermolysis Bullosa

Epidermolysis Bullosa 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. The prevalence of epidermolysis varies among different populations. A study in Scotland estimated the prevalence to be one in 20,400. Researchers in other parts of the world estimate the prevalence to be one in 100,000. This variance is due to the variability of expression. 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

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. Dystrophic EB is caused by mutations in genes for type VII collagen, the protein contained in the fibers anchoring the epidermis to the deeper layers of the skin. The genetic mutations for junctional EB are found in the genes responsible for producing the protein Laminin-5. Dystrophic EB is an autosomal disorder and will only result if both parents transmit an abnormal gene during conception. 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.

Epidermolysis Bullosa 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

Epidermolysis Bullosa Treatment

The most important treatment for EB is daily wound care. Because the skin is very fragile, care must be taken to be certain that dressing changes do not cause further damage. 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. 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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