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Epidermolysis bullosa

Definition

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LO-sah) is a group of skin conditions whose hallmark is blistering in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. Four main types of epidermolysis bullosa exist, with numerous subtypes. Most are inherited.

Most types of epidermolysis bullosa initially affect infants and young children, although some people with mild forms of the condition don't develop signs and symptoms until adolescence or early adulthood. Mild forms of epidermolysis bullosa may improve with age, but severe forms may cause serious complications and can be fatal.

There's currently no cure for epidermolysis bullosa. For now, treatment focuses on addressing the symptoms, including pain prevention, wound prevention, infection and severe itching that occurs with continuous wound healing.

Junctional epidermolysis bullosa

Image showing junctional epidermolysis bullosa
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Junctional epidermolysis bullosa generally becomes apparent at birth and is usually severe. Large, ulcerated blisters are common to junctional epidermolysis bullosa and can lead to infections and ...

Symptoms

The primary indication of epidermolysis bullosa is the eruption of fluid-filled blisters (bullae) on the skin, most commonly on the hands and feet in response to friction. Blisters of epidermolysis bullosa typically develop in various areas, depending on the type. In mild cases, blisters heal without scarring.

Signs and symptoms of epidermolysis bullosa may include:

  • Blistering of your skin how widespread and severe depends on the type
  • Deformity or loss of fingernails and toenails
  • Internal blistering, including on the throat, esophagus, upper airway, stomach, intestines and urinary tract
  • Skin thickening on palms and soles of the feet (hyperkeratosis)
  • Scalp blistering, scarring and hair loss (scarring alopecia)
  • Thin-appearing skin (atrophic scarring)
  • Tiny white skin bumps or pimples (milia)
  • Dental abnormalities, such as tooth decay from poorly formed tooth enamel
  • Excessive sweating
  • Difficulty swallowing (dysphagia)

When to see a doctor
Contact your doctor promptly if you or your child develops blisters, particularly if there's no apparent reason for them.

In some cases of epidermolysis bullosa, blistering 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.

Call your doctor immediately if you or your child experiences problems swallowing or breathing.

Also seek immediate care if you or your child has been diagnosed with epidermolysis bullosa and develops signs of an infection around an open area of skin, including:

  • Redness, heat or pain
  • Pus or a yellow discharge
  • Crusting
  • A red line or streak under the skin, spreading outward from the wound
  • A wound that does not heal
  • Fever or chills

Blisters can lead to infection and deformity. Your doctor can show you how to care for them properly and advise you on ways to prevent them.

Causes

In most cases, epidermolysis bullosa is inherited. Researchers have identified more than 10 genes involved with skin formation that, if defective, may cause a type of epidermolysis bullosa. It's also possible to develop epidermolysis bullosa as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell.

Your skin comprises an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane zone. Where and when blisters develop depend on the type of epidermolysis bullosa.

The four main types of this condition are:

  • Epidermolysis bullosa simplex. This most common and generally mildest form usually begins at birth or during early infancy. In some people, mainly the palms of the hands and soles of the feet are affected. In epidermolysis bullosa simplex, the faulty genes are those involved in the production of keratin, a fibrous protein in the top layer of skin. The condition causes the skin to split in the epidermis, which produces blisters, usually without scar formation.

    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, there's a 50 percent chance that each of his or her offspring will have the defect.

  • Junctional epidermolysis bullosa. This usually severe type of the disorder generally becomes apparent at birth. In junctional epidermolysis bullosa, the faulty genes are involved in the formation of thread-like fibers (hemidesmosomes) that attach your epidermis to your basement membrane. This gene defect causes tissue separation and blistering in your basement membrane zone.

    Junctional epidermolysis bullosa is the result of both parents carrying one copy of the defective gene and passing on the defective gene (autosomal recessive inheritance pattern), although neither parent may clinically have the disorder (silent mutation). If both parents carry one faulty gene, there's a 25 percent chance each of their offspring will inherit two defective genes one from each parent and develop the disorder.

  • Dystrophic epidermolysis bullosa. This type, whose subtypes range from mild to severe, generally becomes apparent at birth or during early childhood. In dystrophic epidermolysis bullosa, the faulty genes are involved in the production of a type of collagen, a strong protein in the fibers that hold the deepest, toughest layer of your skin together. As a result, the fibers are either missing or nonfunctional. Dystrophic epidermolysis bullosa can be either dominant or recessive.

Epidermolysis bullosa acquisita (EBA) is another rare type of epidermolysis bullosa, which isn't inherited. Blistering associated with this condition occurs as the result of the immune system mistakenly attacking healthy tissue. It's similar to a condition called bullous pemphigoid, which also is related to an immune system disorder. EBA has been associated with Crohn's disease, an inflammatory bowel disease.

Basement membrane zone

Illustration showing basement membrane zone
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Depending on the type of epidermolysis bullosa, blistering may occur in the top layer of skin (epidermis), the bottom layer (dermis) or the layer that separates the two (basement membrane zone). ...

Autosomal dominant inheritance pattern

Illustration of autosomal dominant inheritance pattern
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In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You only need one mutated gene to be affected by this type of disorder. A ...

Autosomal recessive inheritance pattern

Illustration showing autosomal recessive inheritance pattern
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To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one ...

Epidermolysis bullosa simplex

Image showing epidermolysis bullosa simplex
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Epidermolysis bullosa simplex usually becomes apparent at birth or during early infancy. It's the most common and least severe type. Blistering may be relatively mild with epidermolysis bullosa ...

Junctional epidermolysis bullosa

Image showing junctional epidermolysis bullosa
Enlarge Image
Junctional epidermolysis bullosa generally becomes apparent at birth and is usually severe. Large, ulcerated blisters are common to junctional epidermolysis bullosa and can lead to infections and ...

Dystrophic epidermolysis bullosa

Image showing dystrophic epidermolysis bullosa
Enlarge Image
Dystrophic epidermolysis bullosa generally becomes apparent at birth or during early childhood. More severe forms of dystrophic epidermolysis bullosa can lead to rough, thickened skin, scarring, and ...

Risk factors

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

Complications

In its more-severe forms, epidermolysis bullosa can have serious complications and can be fatal. Possible complications include:

  • Secondary skin infection. Blistering can leave skin vulnerable to bacterial infection, particularly staph infection, and increase your chances for sepsis.
  • 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 fingers, knees and elbows. Special bandaging wrapped between the fingers is often used to protect the fingers and prevent this complication.
  • Malnutrition. If you or your child has a form of epidermolysis bullosa that causes blistering of the mouth and other mucous membranes, eating may be difficult. The resulting malnutrition can inhibit normal growth. Children with severe epidermolysis bullosa often improve with placement of a feeding tube (gastrostomy tube) so that they can receive supplemental nutrition.
  • Anemia. Continuous loss of blood from open sores and possibly inability to take in adequate nutrition may contribute to iron deficiency anemia, but the true cause is unknown.
  • Eye disorders. Inflammation in the mucous membrane (conjunctiva) that lines your eyelids and part of your eyeballs can lead to erosion of the transparent, dome-shaped surface of your eyes (cornea) and, sometimes, blindness.
  • Skin cancer. As adolescents and adults, people with certain types of epidermolysis bullosa are at high risk of developing a type of skin cancer known as squamous cell carcinoma.
  • Death. Infants who have a lethal 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 of internal organs, which may hamper their ability to get enough nourishment and, sometimes, to breathe. Many of these infants die in childhood. Milder forms of epidermolysis bullosa, however, may not affect life expectancy.
  • Constricted esophagus. A continuous cycle of blistering and scarring may cause narrowing in the esophagus, making it difficult to swallow. Surgical dilatation of the esophagus can relieve this and make it easier for food to travel from your mouth to your stomach.
  • Hoarse voice. Blisters and scarring in the throat and esophagus may cause a hoarse voice or hoarse-sounding cry in babies.

Preparing for your appointment

Call your doctor if your baby or child develops unexplained blisters. Mention right away if your baby or child has any signs of infection around a blister, such as pus, redness, increasing pain or warm skin. In some cases, your doctor may recommend immediate medical care.

After examining your child, your doctor may refer you to a specialist in the diagnosis and treatment of skin conditions (dermatologist).

Here's some information to help you prepare for your appointment.

What you can do

  • Write down any signs and symptoms your child has been experiencing, and for how long.
  • Note any new sources of friction around the blistering areas, if any. For example, tell your doctor if your toddler has recently started walking or your older child has begun physical activities that put new pressure on the affected areas.
  • Write down key medical information, including other medical problems with which your baby or child has been diagnosed. Also list the names of all over-the-counter and prescription medications your child is taking, as well as any vitamins or supplements.
  • Ask a trusted family member or friend to join you for your child's appointment. If your child is diagnosed with epidermolysis bullosa, you may have difficulty focusing on anything the doctor says after making the diagnosis. Take someone along who can offer emotional support and can help you recall all the information.
  • Write down the questions you want to be sure to ask your doctor.

For epidermolysis bullosa, some basic questions to ask your doctor include:

  • What is likely causing my child's signs and symptoms?
  • Are there any other possible causes for these symptoms?
  • What kinds of tests does my child need?
  • Are treatments available for this condition?
  • What can be done to relieve my child's pain or discomfort?
  • How do I take care of my child's needs, such as feeding, bathing and clothing him or her?
  • What are the possible complications of this condition?
  • What signs or symptoms related to this condition should prompt me to call you?
  • What signs or symptoms should prompt me to call 911 or my local emergency number?
  • What restrictions does my child need to follow?
  • Do you expect my child's symptoms will improve with age?
  • If I plan to have more children in the future, are they at increased risk of this condition?
  • How can I find other families who are coping with epidermolysis bullosa?
  • Where can I find additional information and resources?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.

What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to talk about in-depth. Your doctor may ask:

  • When did you first notice blistering on your child?
  • What parts of your child's body have been affected?
  • Does anything in particular seem to trigger blistering? For example, is it made worse by heat?
  • Has your child developed sores where bandages or adhesive tape has been applied?
  • Has your child had any signs or symptoms in addition to blistering?
  • Does eating or swallowing seem to cause your child pain?
  • Has your child's cry or voice sounded hoarse?
  • Has anyone in your family had a condition marked by significant blistering?
  • Has your child been diagnosed with any other medical conditions?

What you can do in the meantime
In the time leading up to your appointment, you can minimize the risk of your child developing new blisters by:

  • Lifting or touching your child only very gently
  • Keeping your home consistently cool
  • Keeping your child's skin moist with lubricants, such as petroleum jelly
  • Dressing your child only in soft materials
  • Keeping your child's fingernails short

Call your doctor immediately if you see signs of possible infection around a blister.

Tests and diagnosis

Your doctor may suspect epidermolysis bullosa from the appearance of the skin, but laboratory tests are needed to confirm the diagnosis. They include:

  • Skin biopsy. Removing a small sample of affected skin and examining it under a microscope can reveal which layer of skin is separating and which type of epidermolysis bullosa is present. Sometimes very specialized tests, such as electron microscopy or immunoelectron microscopy, are required to confirm the diagnosis.
  • Genetic testing. Because most forms of epidermolysis bullosa are inherited, the results of genetic testing, usually done with a blood sample sent to a lab for analysis, can confirm the diagnosis.

Treatments and drugs

Treatment of epidermolysis bullosa aims mainly at preventing complications and easing discomfort from blistering.

Skin care
Blisters may be large and, once broken, susceptible to infection and fluid loss. Your doctor may recommend the following tips for treating blisters and raw skin:

  • Puncture blisters with a sterile needle to prevent the blister from spreading further. Leaving the roof of the blister intact allows for drainage of the blister while protecting the underlying skin.
  • Apply antibiotic ointment, petroleum jelly or other moisturizing substance before applying a special nonsticking bandage.
  • Soak wounds with a disinfectant solution. For wounds that don't heal, infection with bacteria such as pseudomonas may be playing a role. Soaks with diluted vinegar solution are sometimes used as a disinfectant, starting with a low enough concentration that the solution doesn't sting but is still helpful to remove germs.

Surgery
Ideally, deformities and fusion of the hands and feet can be prevented with daily protective wrapping. However, repeated blistering and scarring can cause deformities, such as fusing of the fingers or toes or abnormal bends in the joints (contractures). Your doctor may recommend surgery to correct these deformities, particularly if they interfere with normal motion.

Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgery to widen (dilate) the esophagus may be needed. Using light sedation, the surgeon positions a small balloon in the esophagus and inflates it to dilate the area.

To improve nutrition and help with weight gain, a tube (gastrostomy tube) may be implanted to deliver food directly to the stomach. Feedings through the tube may be delivered overnight using a pump. Eating through the mouth is continued if possible so that the child will be able to eat with others for normal socializing.

Physical therapy
Working with a physical therapist can help ease the limitations on motion caused by scarring and shortening of the skin (contracture). Swimming may be helpful for many people.

Intensive studies are under way to find better ways to treat and relieve the symptoms of epidermolysis bullosa, including gene replacement, bone marrow transplantation and recombinant protein therapies.

Lifestyle and home remedies

Careful wound care and good nutrition are essential to your or your child's health. If blisters are left intact, they can enlarge, which creates a bigger wound when they finally break. Talk to your doctor about safe ways for you to break and drain blisters before they get too large. Your doctor can also recommend products to use to keep the affected areas moist to promote healing, such as gauze that contains a moisturizing agent, and prevent infection.

When tending to your child's wounds:

  • Always wash your hands before touching your child's blisters.
  • If a soiled dressing sticks, don't pull it off. Soak the area in warm water until the dressing loosens.

If oral or esophageal blisters are inhibiting your child's ability to eat, here are some suggestions:

  • If drinking from breast or bottle causes your infant to develop blisters, try using nipples designed for premature infants or infants with cleft palate or a facial birth defect, or use a syringe or eyedropper.
  • For older children, puree foods with extra liquid, such as broth or milk, to make them softer.
  • Serve soft, nutritious foods such as vegetable soups and fruit smoothies.

Coping and support

Caring for a child with a chronic disease can be stressful. And providing your child with the emotional support needed to live with a chronic illness and to deal with being different from other children can be extremely difficult. For some people, sharing concerns and information with families in similar circumstances can be helpful.

Ask your health care providers for epidermolysis bullosa support groups in your area. If joining a support group isn't for you, ask about counselors, clergy or social workers who work with families coping with epidermolysis bullosa.

Bandages for patients with epidermolysis bullosa can be expensive. Companies that make these bandages may be willing to work with your insurance company to obtain coverage.

Prevention

It's not possible to prevent epidermolysis bullosa, but you can take steps to help prevent blisters, for yourself or for 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.
  • Moderate the temperature in your home. Set your thermostat so that your home remains cool, and the temperature remains steady.
  • Keep your child's skin moist. Gently apply lubricants, such as petroleum jelly.
  • Dress your child in soft materials. Use clothing that's simple to get on and off.
  • Trim your child's fingernails regularly. Short fingernails will help prevent scratching.
  • 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 accidentally applied to yourself or your child's skin.
  • 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.
Updated: 9/27/2011

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