Overview

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

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 caring for blisters and preventing new ones.

Source: http://www.mayoclinic.com

Symptoms

Epidermolysis bullosa signs and symptoms vary depending on type. They include:

• Fragile skin that blisters easily, especially on the hands and feet
• Nails that are thick or don't form
• Blisters inside the mouth and throat
• Thickened skin on the palms and 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)
• Itchy, painful skin

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. For infants, severe blistering can be life-threatening.

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

Source: http://www.mayoclinic.com

Causes

Epidermolysis bullosa is usually inherited. The disease gene may be passed on from one parent who has the disease (autosomal dominant inheritance). Or it may be passed on from both parents (autosomal recessive inheritance) or arise as a new mutation in the affected person that can be passed on.

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. The various types of epidermolysis bullosa are largely defined by which layer the blisters form in.

The main types of epidermolysis bullosa are:

• Epidermolysis bullosa simplex. This is the most common form. It develops in the outer layer of skin and mainly affects the palms and the feet. The blisters usually heal without scarring.
• Junctional epidermolysis bullosa. This type may be severe, with blisters beginning in infancy. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.
• Dystrophic epidermolysis bullosa. This type is related to a flaw in the gene that helps produce a type of collagen that provides strength to the pig-skinlike dermis layer of the skin. If this substance is missing or doesn't function, the layers of the skin won't join properly.

Source: http://www.mayoclinic.com

Diagnosis

A doctor may suspect epidermolysis bullosa from the appearance of the affected skin. He or she will likely have your child undergo laboratory tests to confirm the diagnosis. They may include:

• Skin biopsy for immunofluorescent mapping. With this technique, a small sample of affected skin is removed and examined with a microscope and reflected light to identify the layer or layers of skin involved. This test also identifies whether the proteins needed for skin growth are functioning.
• Genetic testing. Genetic testing is sometimes used to confirm the diagnosis because most forms of epidermolysis bullosa are inherited. A small sample of blood is taken 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.

Source: http://www.mayoclinic.com

Complications

Complications of epidermolysis bullosa may include:

• Infection. Blistering skin is vulnerable to bacterial infection.
• Sepsis. Sepsis occurs when bacteria from a massive infection enter the bloodstream and spread throughout the body. Sepsis is a rapidly progressing, life-threatening condition that can cause shock and organ failure.
• Fusion of fingers and changes in the joints. Severe forms of epidermolysis bullosa can cause fusion of fingers or toes and abnormal bending of joints (contractures). This can affect the function of the fingers, knees and elbows.
• Problems with nutrition. Blisters in the mouth can make eating difficult and lead to malnutrition and anemia (such as low iron levels in the blood). Problems with nutrition can also cause delayed wound healing and, in children, slowed growth.
• 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.
• Dental problems. Tooth decay and problems with tissues inside the mouth are common with some types of epidermolysis bullosa.
• 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.

Source: http://www.mayoclinic.com

Prevention

It's not possible to prevent epidermolysis bullosa. But you can take steps to help prevent blisters and infection.

• Handle your child gently. Your infant or child needs cuddling, 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.
• Keep the home environment cool. 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 your child in soft clothes. Use soft clothing that's simple to get on and off. It may help to remove labels and put clothing on seam-side out to minimize scratching. 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 your child's fingernails regularly. Consider putting mittens on him or her at bedtime to help prevent scratching and infection.
• Encourage your child to be active. As your child grows, encourage him or her to be involved in activities that don't cause skin injury. Swimming is a good option. For children with mild forms of epidermolysis bullosa, they can protect their skin by wearing long pants and sleeves for outdoor activities.
• Cover hard surfaces. For example, place sheepskin on car seats and line the bathing tub with a thick towel.

Lifestyle and home remedies

You can take steps at home to care for blisters and prevent new ones from forming. Learn how to care for wounds and provide good nutrition, which are essential to people with epidermolysis bullosa.

Caring for blisters

Your doctor can show you how to care for blisters properly and advise you on ways to prevent them. Talk to your doctor about safe ways to break and drain blisters before they get too large. Your doctor can also recommend products to help keep the affected areas moist, which helps promote heling and prevent infection.

In general, take these steps:

• Wash your hands. Wash your hands before touching your child's blisters or changing dressings.
• 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 loosens stuck bandages and 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 each new blister in two spots. But leave the roof of the blister intact to allow for drainage while protecting the underlying skin.
• Apply treated dressings. Spread petroleum jelly or other moisturizing substance on a nonstick bandage (Mepilex, Telfa, Vaseline gauze). Then gently place the bandage on the wound. Secure the pad with rolled gauze if needed.
• Wrap blistered hands and feet daily. With some severe forms of this condition, daily wraps help prevent contractures and fusion of the fingers and toes. Special wraps and gauze dressings are useful for this treatment.
• Watch for signs of infection. If you notice redness, heat, pus or a red line leading from the blister, talk with your doctor about prescription antibiotics.
• Keep cool. Blistering is often worsened by heat and warm conditions.

Providing good nutrition

A varied, nutritious diet promotes growth and development in children and helps wounds heal. If blisters in the mouth or throat make it difficult for your child to eat, here are some suggestions:

• For babies, try bottle 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 food and beverages lukewarm, at room temperature or cold.
• Talk with a dietitian or doctor about using supplements to minimize nutrient and vitamin deficiencies.

Source: http://www.mayoclinic.com

Coping and support

Treating and preventing blisters and complications of epidermolysis bullosa can be stressful for you, your child and family members. 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.

Source: http://www.mayoclinic.com

Risk factors

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

Source: http://www.mayoclinic.com