Epidermolysis bullosa

 

Top of Form

 

Epidermolysis Bullosa

Epidermolysis bullosa

Overview

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

Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don't develop symptoms until they're teens or young adults.

Epidermolysis bullosa has no cure, but mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones.

Symptoms

Epidermolysis bullosa symptoms include:

·         Fragile skin that blisters easily, especially on the palms and feet

·         Nails that are thick or unformed

·         Blisters inside the mouth and throat

·         Scalp blistering and hair loss (scarring alopecia)

·         Skin that looks thin

·         Tiny pimple-like bumps (milia)

·         Dental problems, such as tooth decay

·         Difficulty swallowing

·         Itchy, painful skin

Usually epidermolysis bullosa blisters are noticed during infancy. But it's not uncommon for them to appear when a toddler first begins to walk or when an older child begins new activities that cause more friction on the soles of the feet.

When to see a doctor

Contact your health care provider if you or your child develops blisters for an unknown reason. 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, painful or swollen skin, pus, or an odor from a sore, and fever or chills

Causes

Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance).

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 types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all.

The main types of epidermolysis bullosa are:

·         Epidermolysis bullosa simplex. This is the most common type. It's brought on by heat and friction and develops in the outer layer of skin. It mainly affects the palms and feet. The blisters 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 protein that glues the skin layers together. If this protein is missing or doesn't function, the layers of the skin won't join properly. It can cause skin that looks thin. Diseased mucous membranes can cause constipation and make it hard to eat.

·         Kindler syndrome. This type tends to cause blisters in multiple layers and so can look very different from person to person. The blisters tend to show up in infancy or early childhood. It increases sun sensitivity and causes skin to look thin, mottled and wrinkly.

Epidermolysis bullosa acquisita is distinct from these conditions, as it isn't inherited and it's rare in children.

Risk factors

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

Complications

Epidermolysis bullosa can worsen even with treatment, so it's important to spot signs of complications early. Complications may include:

·         Infection. Blistering skin can become infected by bacteria.

·         Bloodstream infection. Sepsis occurs when bacteria from an infection enter the bloodstream and spread throughout the body. Sepsis can spread rapidly and lead to shock and organ failure.

·         Fusion of fingers and changes in the joints. Severe forms of epidermolysis bullosa can bind together fingers or toes and cause unusual bending of the 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 slowed growth in children.

·         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. Teenagers and adults with certain types of epidermolysis bullosa are at increased risk of a type of skin cancer called squamous cell carcinoma.

·         Death. Infants with severe junctional epidermolysis bullosa are at high risk of infections and loss of body fluids from widespread blistering. Blisters in the mouth and throat also make it harder to eat and breathe. Many of these infants don't survive.

Prevention

It's not possible to prevent epidermolysis bullosa. But these steps may help prevent blisters and infection.

·         Handle your child gently. Your infant or child needs cuddling, but be very gentle. To pick up a child with epidermolysis bullosa, place the child on soft material and give support under the buttocks and behind the neck. Don't lift the child from under the 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. Try to keep your home cool and the temperature steady.

·         Keep the skin moist. Gently apply moisturizer as needed throughout the day.

·         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 on clothing seam-side out to reduce 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.

·         Encourage your child to be active. As your child grows, encourage activities that reduce the risk of skin injury. Swimming is a good option. For children with mild forms of epidermolysis bullosa, they can protect the skin by wearing long pants and sleeves for outdoor activities.

·         Cover hard surfaces. Consider padding a car seat or bathing tub with sheepskin, foam or a thick towel. Soft cotton or silk can be used as a top layer over the padding.

Top of Form

 

Diagnosis

Your health care provider may identify epidermolysis bullosa from the skin's appearance. You or your child may need tests to confirm the diagnosis. The tests may include:

·         Biopsy for immunofluorescence mapping. With this technique, a small sample of affected skin or mucous membrane is removed and examined with a special microscope. It uses reflected light to identify the layers of skin involved. This test also identifies whether the proteins needed for skin growth are present and healthy.

·         Genetic testing. With this test, your health care provider takes a small sample of blood and sends it to a lab for DNA analysis.

·         Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.

Treatment

Treatment for epidermolysis bullosa may first include lifestyle changes and home care. If these don't control symptoms, your health care provider might suggest one or more of the following treatments:

Medications

Medications can help control pain and itching. Your health care provider may also prescribe pills to fight infection (oral antibiotics) if there are signs of widespread infection, such as fever and weakness.

Surgery

Surgical treatment may be needed. Options sometimes used for this condition include:

·         Widening the esophagus. Blistering and scarring of the long, hollow tube that runs from the throat to the stomach (esophagus) may lead to narrowing of the tube. This makes it hard to eat. Making the tube wider with surgery can make it easier for food to travel to the stomach.

·         Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be needed to deliver food directly to the stomach.

·         Grafting skin. If scarring has affected the function of a hand, the surgeon may suggest a skin graft.

·         Restoring movement. Repeated blistering and scarring can cause fusing of the fingers or toes or unusual bends in the joints (contractures). A surgeon might recommend surgery to correct these conditions if they restrict movement.

Rehabilitation therapy

Working with a rehabilitation specialist can help in learning to live with epidermolysis bullosa. Depending on your goals and how movement is limited, you might work with a physical therapist or an occupational therapist.

Potential future treatments

Researchers are studying better ways to treat and relieve the symptoms of epidermolysis bullosa, including:

·         Gene therapy, including a gel applied to wounds of people with dystrophic epidermolysis bullosa

·         Bone marrow (stem cell) transplantation

·         Protein replacement therapies

·         Other cell-based therapies

Lifestyle and home remedies

You can take steps at home to care for blisters and prevent new ones from forming. Talk with your health care provider about how to care for wounds and provide good nutrition.

Caring for blisters

Your health care provider can show you how to care for blisters properly and advise you on ways to prevent them. Ask about safe ways to drain blisters before they get too large. Ask about recommended products for keeping the affected areas moist. This helps with healing and preventing infection.

In general, take these steps:

·         Wash your hands. Wash your hands before touching 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 antiseizure drugs such as gabapentin.

·         Cleanse skin daily. To cleanse a wound, soak it for 5 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 thick moisturizer on a nonstick bandage (Mepilex, Telfa, Vaseline gauze). Then gently place the bandage on the wound. Secure the bandage 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 heat, pus or lines leading from the blister, talk with your health care provider about prescription antibiotics.

·         Keep it 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 to eat, here are some suggestions:

·         For babies with mild epidermolysis bullosa, breastfeeding is fine. Otherwise, minimize injury from feeding by using bottle nipples designed for premature infants, a syringe or a rubber-tipped medicine dropper. Try softening bottle nipples in warm boiled water.

·         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 your health care provider about how you or your child can get all the needed nutrients and vitamins.

Coping and support

Having a child with epidermolysis bullosa affects every aspect of your life. It can be emotionally distressing for you, your child and family members. Children with this condition need the lifelong support of their health care team and families.

Treating and preventing blisters and worrying about complications can be stressful. You may find it helpful to share concerns and experiences with families in similar circumstances. Ask your health care provider 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.

Ask your health care provider to suggest stress-reduction resources or consult with a psychologist to learn stress-reduction techniques. These approaches may help you cope.

Preparing for your appointment

You may be referred to a doctor who specializes 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 health care provider if a specialized epidermolysis bullosa center is available to you.

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

What you can do

·         List your or your child's signs and symptoms and how long they've been present.

·         Note any new sources of friction around the blistering areas, if any. For example, tell your health care provider 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 you or your child has received a diagnosis for. Also list the names of all nonprescription and prescription medications you or your child is taking. Also list any vitamins and supplements.

·         Ask a trusted family member or friend to join you for the appointment. If your health care provider tells you that your child has epidermolysis bullosa, you may have difficulty focusing on anything else that's said. Take someone along who can offer emotional support and help you recall all the information discussed at your appointment.

·         List the questions to ask your health care provider.

Questions to ask your doctor

·         What's the most likely cause of the signs and symptoms?

·         What are other possible causes for these signs and symptoms?

·         What kinds of tests are needed?

·         What treatments are available, and what types of side effects might they cause?

·         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?

·         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 we need to follow?

·         Do you think my child's symptoms will improve with age?

·         If I plan to have more children, 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?

What to expect from your doctor

Your health care provider is likely to ask you a number of questions. Being ready to answer questions such as the following may reserve time to go over any points you want to talk about in-depth:

·         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?

·         Have sores developed where bandages and adhesive tape have been applied?

·         Have you noticed other signs or symptoms in addition to blistering? For example, a hoarse voice?

·         Does eating or swallowing cause pain?

·         Has anyone in your family had a condition marked by significant blistering?

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 the child very gently

·         Keeping your home consistently cool if possible

·         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 health care provider immediately if you see signs of infection around a blister.

Reference: Click here