Epidermolysis bullosa

• Article
• 2021-01-29

Epidermolysis bullosa is a group of rare diseases that make the skin fragile and easily blister. Tears, sores, and blisters form in the skin when something rubs or bumps the skin. & nbsp; They can be anywhere on the body. In severe cases, blisters can also develop in the body, such as in the mouth, esophagus, stomach, intestines, upper respiratory tract, bladder and genitals.

Most people with epidermolysis bullosa inherit a mutated (altered) gene from their parents. The gene mutation changes the way the body makes proteins that help the skin bind together and stay strong. & nbsp; If you have epidermolysis bullosa, one of these proteins does not form correctly. The skin layers do not bind normally, which can easily cause the skin to tear and blister.

The main symptom of epidermolysis bullosa is fragile skin that leads to blistering and cracking. Symptoms of the disease usually begin at birth or during childhood and range from mild to severe.

There is no cure for the disease; however scientists continue to investigate possible treatments and cures for epidermolysis bullosa. Your doctor will treat the symptoms, including pain management, treatment of wounds caused by blisters and tears, and help cope with the disease.

Symptoms

The symptoms of epidermolysis bullosa vary depending on the type you have. Anyone with the disease has fragile skin that can blister and tear easily. Other symptoms, by type and subtype, include the next.

• Epidermolysis bullosa simplex & nbsp; is the most common form of the disease. & nbsp; People with mild subtype get blisters on the palms and soles. & nbsp In other more severe subtypes, blisters appear all over the body. Depending on the disease subtype, other symptoms may include:
  • Thickened skin on the palms and soles of the feet.
  • Rough, thickened or absent fingernails or toenails.
  • Blisters in the mouth.
  • Changes in the pigmentation (color) of the skin.
• Junctional epidermolysis bullosa & nbsp; is usually severe. & nbsp; People with the most severe form may have open blisters on the face, trunk and legs , which can become infected or cause severe dehydration due to fluid loss. Blisters can also develop in the mouth, esophagus, upper respiratory tract, stomach, intestines, urinary tract and genitals. & nbsp; Other related symptoms and problems with the disease can be:
  • Rough and thickened or absent fingernails and toenails.
  • Thin appearance on the skin.
  • Blisters on the scalp or hair loss with scars.
  • Malnutrition due to poor intake of calories and vitamins due to blistering of the mouth and gastrointestinal tract. & nbsp;
  • Anemia.
  • Slow overall growth.
  • Poorly formed tooth enamel.
• Dystrophic epidermolysis bullosa & nbsp; has slightly different symptoms depending on whether the disease is dominant or recessive; & nbsp; However, most people have the recessive subtype .
  • Recessive subtype: symptoms range from mild to severe and may include:
    • Blisters usually appear over large areas of the body; & nbsp; in some milder cases of the disease, blisters may appear only on feet, elbows and knees.
    • Loss of nails or rough or thick nails.
    • Skin scars, which can cause the skin to be thick or thin.
    • Milia, these are small white bumps on the skin.
    • Itch.
    • Anemia.
    • Slow overall growth.

• • Dominant sub-type: Symptoms may include:
    • Blisters only on hands, feet, elbows and knee & euml; n.
    • Change in shape of nails or nail loss.
    • Milia.
    • Blisters in the mouth.

• Kindler syndrome & nbsp; has no subtypes and the blisters can form in all layers of the skin. & nbsp; The blisters usually appear on the hands and feet and in severe cases spread to other parts of the body, including the esophagus and bladder. & nbsp; Other symptoms include thin, wrinkled skin; & nbsp; scars; & nbsp; milia; & nbsp; and tenderness of the skin for sun damage.

Treatments

There is no cure for epidermolysis bullosa. & nbsp; The goal of treatment is to prevent and manage symptoms by:

• Dealing with pain and itching.
• Protects the skin and cares for blisters and wounds.
• Treat and prevent infection.
• Preserve or restore mobility.
• Maintain good nutrition.

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