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.

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.

Call your doctor if you or your child develops unexplained blisters. Mention right away if you see 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 or your child, your doctor may refer you to a specialist in the diagnosis and treatment of skin conditions (dermatologist).

Specialized epidermolysis bullosa centers

Centers that specialize in the diagnosis, evaluation and treatment of people with epidermolysis bullosa may belong to a network called EB Clinet. Such centers are staffed with doctors, nurses, social workers and rehabilitation specialists who provide specialized care for people with this condition.

Visiting such a center regularly can improve quality of life and reduce hospitalizations from complications for people with epidermolysis bullosa. Ask your doctor if a specialized epidermolysis bullosa center is available to you.

No matter what type of doctor you see first, here's some information to help you prepare for the appointment.

What you can do

  • List any signs and symptoms you or your child have 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.
  • List key medical information, including other medical problems the affected person has received a diagnosis for. Also list the names of all over-the-counter and prescription medications he or she is taking, as well as any vitamins and supplements.
  • Ask a trusted family member or friend to join you for your child's appointment. If your doctor tells you your child has epidermolysis bullosa, you may have difficulty focusing on anything else the doctor says. Take someone along who can offer emotional support and help you recall all the information.
  • List 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 the signs and symptoms?
  • Are there any other possible causes for these symptoms?
  • What tests do you recommend?
  • Are treatments available for this condition?
  • What can be done to relieve 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 do I or 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 people 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 that arise during your appointment.

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 the blistering?
  • What parts of the body have been affected?
  • Does anything in particular seem to trigger blistering? For example, is it made worse by heat?
  • Has the affected person developed sores where bandages or adhesive tape has been applied?
  • Have you noticed other signs or symptoms in addition to blistering?
  • Does eating or swallowing seem to cause pain?
  • Has the voice of the affected person sounded hoarse?
  • Has anyone in your family had a condition marked by significant blistering?
  • Has the affected person 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.

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 for immunofluorescent mapping. With this technique, a small sample of affected skin is removed and examined to identify the layer of skin and proteins involved. This precise, reliable test is less expensive than other specialized testing options, such as electron microscopy.
  • Genetic testing. Genetic testing, if it's available and affordable, is sometimes used to confirm the diagnosis because most forms of epidermolysis bullosa are inherited. A small sample of your blood will be drawn and sent to a lab for analysis.
  • Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.

Treatment of epidermolysis bullosa aims to prevent complications and ease the pain of the blisters with appropriate wound care. The condition often progresses despite treatment, sometimes causing serious complications and death.

Working with a treatment team

Addressing the many aspects of wound care usually requires a multidisciplinary approach. Members of your care team may include:

  • A primary care physician who oversees the treatment plan
  • A physician specializing in wound care
  • Nurses or medical assistants who provide both care and education for managing wounds
  • A physical therapist and occupational therapist
  • A nutritionist
  • A social worker

Sometimes your doctor may involve other specialists, such as a surgeon, a dermatologist, an eye doctor (ophthalmologist), a dentist, a psychologist and a geneticist.

Medications

Medications can help control pain and itching and address complications such as infection in the bloodstream (sepsis). Prescription oral antibiotics may be used if you show signs of a deep or widespread infection (fever, weakness, swollen lymph glands).

An oral anti-inflammatory drug (corticosteroid) may help reduce the pain from dysphagia (difficulty swallowing).

Surgery

Surgery may be considered to correct normal motion or to improve your ability to eat a healthy diet.

  • Restoring mobility. 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.
  • Widening the esophagus. Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgical dilation of the esophagus can relieve this and make it easier for food to travel from the mouth to the stomach.

    The patient receives light sedation, then the surgeon positions a small balloon in the esophagus and inflates it to widen the area.

  • Placing a feeding tube. To improve nutrition and help with weight gain, a feeding 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.
  • Grafting skin. Several types of skin grafts have been used to treat wounds from epidermolysis bullosa. The Food and Drug Administration has approved a type of composite cultured skin (OrCel) for this purpose.

Rehabilitation therapy

Working with a rehabilitation specialist (physical therapist, occupational therapist) can help ease the limitations on motion caused by scarring and shortening of the skin (contracture). A rehabilitation specialist can also give you guidance on the best ways to keep you or your child safe while going about daily activities. Swimming may also be helpful in preserving or regaining mobility.

Researchers investigating treatments

Intensive studies are underway to find better ways to treat and relieve the symptoms of epidermolysis bullosa, including:

  • Gene therapy
  • Bone marrow transplantation
  • Protein replacement therapies
  • Cell-based therapies

Careful wound care and good nutrition are essential for people with epidermolysis bullosa. Blisters can lead to scarring, infection and deformity. Your doctor can show you how to care for blisters properly and advise you on ways to prevent them.

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:

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

Easing the pain of blisters and wound care:

  • Nonprescription pain medications, take orally or apply to dressings
  • Relaxation/distraction
  • Biofeedback
  • Vibration
  • Cooling

Caring for skin and dressing wounds

Careful wound care can help healing and prevent infection. Your doctor may recommend the following tips for treating blisters and raw skin:

  • Control pain. About 30 minutes before a dressing change or other painful procedure, older children and adults may take a prescription-strength pain medication. For people who don't respond to pain relievers, other options include anti-seizure drugs such as gabapentin and pregabalin.
  • Cleanse skin daily. To cleanse a wound, soak it for five to 10 minutes in a mild solution of salt and water. Other options are mild solutions of diluted vinegar or bleach. Soaking also helps reduce the pain of changing bandages. Rinse with lukewarm water.
  • Puncture new blisters. This prevents them from spreading. Use a sterile needle to puncture the blister in two spots. But leave the roof of the blisters intact to allow for drainage while protecting the underlying skin.
  • Apply creams or lotions and cover with dressings. Use antibiotic ointment, petroleum jelly or other moisturizing substance. Then cover the area with a special nonsticking bandage (Mepilex, PolyMem, others). If you use antibiotic creams for a long time, rotate the type you use each month.

    You can choose from a wide variety of dressings, based on the type of eipdermoylis bullosa you're dealing with, the size and location of the wounds, availability, and cost. You may need to hold dressings in place with rolled gauze.

  • Wrap blistered hands and feet daily. With some severe forms of this condition, daily wraps help prevent deformities and fusion of the fingers and toes. Special wraps (Mepitel, others) and gauze dressings (Vaseline Petrolatum Gauze Strip, others) are useful for this treatment.

Nutrition

If blisters in the mouth or throat make it difficult for your child to eat, here are some suggestions:

  • If your infant develops blisters from breast-feeding or bottle-feeding, apply  an oral gel to relieve pain. You might also try nipples designed for premature infants, a syringe or a rubber-tipped medicine dropper.
  • For older children, serve nutritious, soft foods that are easy to swallow, such as vegetable soup and fruit smoothies. Puree solid foods with broth or milk.
  • Serve nutritious foods that are easy to swallow, such as vegetable soups and fruit smoothies.
  • Serve food and beverages lukewarm, at room temperature or cold.
  • Talk with your doctor about using supplements to minimize nutrient and vitamin deficiencies.

Treating and preventing blisters and complications of epidermolysis bullosa can be stressful for you, your child and family members. The person with the condition may experience social isolation, and the family may face increased financial burden.

You may find it helpful to share concerns and information with families in similar circumstances. Ask your health care providers about 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.

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.
Aug. 22, 2014