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Epidermolysis bullosa

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) is a group of rare diseases that cause the skin to blister. The blisters may appear in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or intestines.

Most types of epidermolysis bullosa are inherited. The condition usually shows up in infancy or early childhood. Some people don't develop signs and symptoms until adolescence or early adulthood.

Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment focuses on addressing the symptoms — such as infection and itching — and preventing pain and wounds. Severe forms may cause serious complications and can be fatal.

Symptoms Causes Risk factors Complications Prevention

Epidermolysis bullosa signs and symptoms include:

  • Fluid-filled blisters on the skin, especially on the hands and feet due to friction
  • Deformity or loss of fingernails and toenails
  • Internal blistering, including on the vocal cords, esophagus and upper airway
  • Skin thickening on the palms and the soles of the feet
  • Scalp blistering, scarring and hair loss (scarring alopecia)
  • Thin-appearing skin (atrophic scarring)
  • Tiny white skin bumps or pimples (milia)
  • Dental problems, such as tooth decay from poorly formed enamel
  • Difficulty swallowing (dysphagia)

Epidermolysis bullosa blisters may not appear until a toddler first begins to walk or until an older child begins new physical activities that trigger more intense friction on the feet.

When to see a doctor

Contact your doctor if you or your child develops blisters, particularly if you don't know the reason for them.

Seek immediate medical care if you or your child:

  • Has problems swallowing
  • Has problems breathing
  • Shows signs of infection, such as warm, red, painful or swollen skin, pus or a foul odor from a sore, and fever or chills

Epidermolysis bullosa is usually inherited. Researchers have identified more than a dozen genes involved with skin formation that, if defective, may cause a type of epidermolysis bullosa.

The skin is made up of an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane zone. The type of epidermolysis bullosa you have is defined by where in these layers the blisters form.

The main types of epidermolysis bullosa are:

  • Epidermolysis bullosa simplex. This is the most common form. It usually begins at birth or in early infancy and affects mainly the soles of the feet and the palms.

    In epidermolysis bullosa simplex, the gene that helps produce a fibrous protein (keratin) in the top layer of skin is faulty. The condition causes blistering in the epidermis. The blisters usually don't result in scars with this mild type.

    If you have epidermolysis bullosa simplex, it's likely you inherited a single copy of the defective gene from one of your parents (autosomal dominant inheritance pattern). If one parent has the single faulty gene, each of his or her offspring has a 50 percent chance of having the defect.

  • Junctional epidermolysis bullosa. This type usually is severe and becomes apparent at birth. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.

    The genes that help form thread-like fibers (fibrils) that attach the epidermis to the basement membrane are faulty. This gene defect causes tissue separation and blistering in this deeper layer of skin.

    If you have junctional epidermolysis bullosa, it's because both your parents carry one copy of the defective gene and passed on the defective gene (autosomal recessive inheritance pattern). Even so, neither parent may show signs or symptoms of the disorder (silent mutation). If both parents carry one faulty gene, each of their offspring has a 25 percent chance of developing the disorder.

  • Dystrophic epidermolysis bullosa. With this type, you may experience mild to severe signs and symptoms. It generally becomes apparent at birth or during early childhood.

    This condition is related to a flaw in the gene that helps produce a type of collagen. If this substance is missing or doesn't function, the layers of the skin won't join properly.

    This type can be either dominant or recessive.

  • Kindler syndrome. This type is rare and usually becomes apparent at birth or soon after.

    This condition is called mixed type because blisters appear across the skin layers. The condition usually improves with time and can disappear. It is the only type that causes patchy discoloring (mottling) of skin exposed to the sun.

    Kindler syndrome is recessive.

Epidermolysis bullosa acquisita is a rare type that isn't inherited. The blisters result from your immune system attacking healthy tissue by mistake. It's similar to another immune system disorder called bullous pemphigoid. It tends to cause blisters on the hands, feet and mucous membranes.

Having a family history of epidermolysis bullosa is the major risk factor for developing the disorder.

Epidermolysis bullosa complications include:

  • Infection. Blistering skin is vulnerable to bacterial infection.
  • Sepsis. Sepsis occurs when bacteria from a massive infection enter your bloodstream and spread throughout your body. Sepsis is a rapidly progressing, life-threatening condition that can cause shock and organ failure.
  • Deformities. Severe forms of epidermolysis bullosa can cause fusion of fingers or toes and abnormal bending of joints (contractures), such as those of the fingers, knees and elbows.
  • Malnutrition and anemia. Blisters in the mouth can make eating difficult and lead to malnutrition. This may lead to anemia (such as low iron levels in the blood), delayed wound healing or, in children, slowed growth.
  • Dehydration. Large, open blisters can cause loss of body fluid that leads to severe dehydration.
  • Constipation. Difficulty passing stool may be due to painful blisters in the anal area. It can also be caused by not ingesting enough liquids or high-fiber foods, such as fruits and vegetables.
  • Eye disorders. Inflammation of the eye can harm the clear covering over the eye (cornea) and, sometimes, cause blindness.
  • Skin cancer. Adolescents and adults with certain types of epidermolysis bullosa are at high risk of developing a type of skin cancer known as squamous cell carcinoma.
  • Death. Infants with a severe form of junctional epidermolysis bullosa are at high risk of infections and loss of body fluids from widespread blistering. Their survival also may be threatened because of blistering, which may hamper their ability to eat and breathe. Many of these infants die in childhood.

It's not possible to prevent epidermolysis bullosa. But you can take steps to help prevent blisters and infection, for you or your child.

  • Handle your child gently. Your infant or child needs your touch, but be very gentle. To pick up your child, place him or her on soft material, such as cotton, and support under the buttocks and behind the neck. Don't lift your child from under his or her arms.
  • Take special care with the diaper area. If your child wears diapers, remove the elastic bands and avoid cleansing wipes. Line the diaper with a nonstick dressing or spread it with a thick layer of zinc oxide paste.
  • Moderate the temperature in your home. Set your thermostat so that your home remains cool and the temperature remains steady.
  • Keep the skin moist. Gently apply lubricants, such as petroleum jelly.
  • Dress yourself or your child in soft materials. Use clothing that's simple to get on and off. Try sewing foam pads into the lining of clothing by elbows, knees and other pressure points. Use soft special shoes, if possible.
  • Prevent scratching. Trim fingernails regularly. Consider putting mittens on your infant at bedtime to help prevent scratching. This helps prevent infection.
  • Have your child refrain from rough activities. Prevent older children from participating in contact sports or other activities in which skin can be rubbed or injured easily. For mild forms, simple measures such as placing your child in long pants and sleeves for outdoor activities can be helpful.
  • Take care when dressing blisters. Don't apply adhesive bandages or tape to the skin. Be vigilant when medical procedures are performed to assure that tape is not used. By protecting blisters from breaking, you help prevent infection and fluid loss.
  • Avoid hard surfaces and rough materials. Use sheepskin or other soft material on car seats and infant seats. Use a water or air mattress on your child's bed and soft sheets and blankets.
  • Provide good nutrition. A varied, nutritious diet promotes growth and development in children and helps wounds heal. Consider using vitamins and supplements — such as calcium, iron and vitamin D — to help prevent complications.
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