Epidermolysis bullosa

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Eidermolysis bullosa

An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen vii or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.

Overview of Epidermolysis Bullosa

Epidermolysis bullosa is a group of diseases in which even minor rubbing of the skin can cause blistering. In severe cases, blisters may also develop inside the body, such as in the mouth, esophagus, stomach, intestines, upper airway, bladder, and genitals.

If you have epidermolysis bullosa, you received faulty genes from either one or both parents. You can have the disease even if your parents do not show symptoms of it. A genetic counselor can test for disease genes, provide information on the likelihood of passing the defective gene to your children, and provide advice on future childbearing.

Who Gets Epidermolysis Bullosa?

Epidermolysis bullosa occurs in all racial and ethnic groups and affects males and females equally. The disease is not always evident at birth. Milder cases of epidermolysis bullosa may appear when a child crawls, walks, or runs, or when a young adult is very active.

Types of Epidermolysis Bullosa

The different forms of epidermolysis bullosa include:

  • Epidermolysis bullosa simplex—tissue separation and blistering occur in the top layer of the skin (epidermis).
  • Junctional epidermolysis bullosa—tissue separation and blistering occur in the top portion of the basement membrane (area between the skin layers), due to problems in attachment between the epidermis and basement membrane.
  • Dystrophic epidermolysis bullosa—tissue separation and blistering occur in the basement membrane due to problems in attachment between the epidermis and dermis (the inner skin layer).
  • Epidermolysis bullosa acquisita—a rare autoimmune disorder where the body attacks its own anchoring structures in the skin.

Symptoms of Epidermolysis Bullosa

Epidermolysis bullosa is indicated by skin blisters, although each disease type can have somewhat different symptoms:

  • Epidermolysis bullosa simplex usually begins with blistering at birth or shortly afterward. In a mild subtype called Weber-Cockayne, blisters are usually found on the feet and hands. In other subtypes, the blisters occur over the entire body. Other signs may include thickened skin on the palms of the hands and soles of the feet; rough, thickened, or absent fingernails or toenails; and blistering inside the mouth. Less common signs include slow growth; blisters in the esophagus; anemia; scarring of the skin; and small, white skin bumps.
  • Junctional epidermolysis bullosa is usually severe. The most serious form can be life-threatening because large, open blisters on the face, trunk, and legs may become infected or produce severe dehydration due to fluid loss. Survival is also threatened by blisters in the esophagus, upper airway, stomach, intestines, urinary system, and genitals. Other signs found in both severe and milder forms are rough and thickened or absent fingernails and toenails; a thin appearance to the skin; blisters on the scalp or loss of hair with scarring; malnutrition; anemia; slow growth; blisters inside the mouth and nose; and poorly formed tooth enamel.
  • Dystrophic epidermolysis bullosa has slightly different symptoms, depending upon whether the disease gene is inherited from one or both parents.
    • Dominant subtype is where the disease gene is passed down from only one parent. In some cases, blisters may appear only on the hands, feet, elbows, and knees; nails usually are shaped differently; small, white bumps may appear on the skin of the trunk and limbs; and there may be involvement of the soft tissues, especially the esophagus.
    • Recessive subtype is where the disease gene is passed down from both parents. This subtype is characterized by blisters over large areas of the body; loss of nails or rough or thick nails; scars that leave a pit in the skin; small, white bumps on the skin; itching, anemia; and slow body growth.
      • In milder cases of this subtype, blisters may appear only on the hands, feet, elbows, and knees; nails usually are shaped differently; small, white bumps may appear on the skin of the trunk and limbs; and there may be involvement of the soft tissues, especially the esophagus.
      • Severe forms of this subtype may lead to eye damage; tooth loss; blistering inside the mouth and gastrointestinal tract; and fusing together of the fingers or toes. There is also a high risk of developing skin cancer on the hands and feet. This cancer tends to grow and spread faster in people with epidermolysis bullosa than in those without the disease.

Causes of Epidermolysis Bullosa

If you have epidermolysis bullosa, you received faulty genes from either one or both parents. You can have the disease even if your parents do not show symptoms of it.

Specific causes depend on the form of the disease:

  • In epidermolysis bullosa simplex, there is usually a defect in genes inherited from one parent. The faulty genes are those responsible for formation of an anchoring protein in the top layer of skin. As a result, the skin splits in the epidermis, producing a blister.
  • In junctional epidermolysis bullosa, there is a defect in the genes inherited from both parents. These genes normally promote the formation of structures that anchor the top layer of the skin (epidermis) to the basement membrane (area between the epidermis and dermis, the bottom-most skin layer). The defect leads to tissue separation and blistering in the upper part of the basement membrane.
  • In dystrophic epidermolysis bullosa, there are defective genes inherited from either one or both parents. The result is that the anchoring structures between the epidermis and the dermis are either absent or do not function.
  • Epidermolysis bullosa acquisita sometimes occurs following drug therapy for another condition. In most cases, the cause is unknown.

Diagnosis of Epidermolysis Bullosa

Dermatologists can identify where the skin is separating to form blisters. To determine the type of epidermolysis bullosa, a small sample of skin is examined under a microscope to see if certain proteins are missing or reduced, or if there are problems in skin structure.

Defective genes can also be identified in epidermolysis bullosa patients and their family members. Prenatal diagnosis can now be accomplished as early as the 10th week of pregnancy.

Treatment of Epidermolysis Bullosa

There is no cure for epidermolysis bullosa, although there are medicines to help prevent infection and to reduce discomfort. Consult your health care professional about the best options for you.

Goals of treatment include preventing blisters, caring for blistered skin, treating infection, and treating nutritional problems.

Surgery may be an option in some cases:

  • Severe forms of dystrophic epidermolysis bullosa may cause the esophagus to narrow, requiring it to be widened so that food can travel from the mouth to the stomach.
  • People who are not getting proper nutrition may need a tube that places food directly in the stomach.
  • People whose fingers or toes are fused together may require surgery to release them.

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