Description

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 the stomach.

Epidermolysis bullosa is a hereditary disease, and usually occurs in infants or young children. Some people do not develop symptoms until they are teenagers or young adults.

Epidermolysis bullosa has no cure, but the milder forms may improve with age. The treatment focuses on the care of the blisters and the prevention of new ones.

Symptoms

Epidermolysis bullosa symptoms include:

  • The fragile skin that blisters easily, especially on the palms of the hands and feet
  • The nails are thick or deformed
  • Blisters in the mouth and throat
  • Scalp blisters and hair loss (scarring alopecia)
  • The skin looks thin
  • Small, pimple-like bumps (milia)
  • Dental problems such as dental caries
  • Difficulty swallowing
  • Itching, pain in the skin

Usually epidermolysis bullosa blisters were noticed during childhood. But it is not unlikely that appear when a child begins to walk, or when an older child starts 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 have blistering, for an unknown reason. For infants, severe blistering can be deadly.

Seek medical attention right away if you or your child:

  • You have trouble swallowing
  • Has trouble breathing
  • Shows signs of infection, such as, hot, pain, or swelling of the skin, pus, or a smell of a pain, and fever or chills

Causes

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

The skin consists of an outer layer (epidermis) and an underlying layer (dermis). The area where the layers are called the basement membrane. Types of epidermolysis bullosa is defined mainly by the layers that are separated and form blisters. The injury to the skin can be caused by a minor injury, lump, or nothing at all.

The main types of epidermolysis bullosa are:

  • Epidermolysis bullosa simplex. This is the most common type. It is caused by the heat and the friction that develops in the outer layer of the skin. Primarily affects the palms of the hands and feet. The blisters heal without scarring.
  • Union of epidermolysis bullosa. This type can be severe with blistering start in childhood. A baby with this condition may develop a hoarse cry of continuous formation of blisters and scarring of the vocal cords.
  • Dystrophic epidermolysis bullosa. This type is related to a defect in the gene that helps produce a protein that binds the layers of the skin together. If this protein is missing or does not work, the layers of the skin do not bind properly. It can cause the skin looks thin. Sick of the mucous membranes, can cause constipation and make it difficult to eat.
  • The syndrome Kindler. This type tends to cause blisters in multiple layers, and thus may appear to be very different from person to person. The blisters usually appear in infancy or early childhood. Increases sensitivity to the sun and causes the skin to look thin, stained and wrinkled.

Epidermolysis bullosa acquisita is different from these conditions, because it is not hereditary and is rare in children.

Risk factors

The main risk factor for the development of epidermolysis bullosa is to have a family history of the disease.

Complications

Epidermolysis bullosa can get worse, even with treatment, so it is important to detect signs of complications to time. Complications can include:

  • Infection. Skin blisters can become infected by bacteria.
  • Infection of the bloodstream. Sepsis occurs when bacteria from an infection entering the bloodstream and spread throughout the body. Sepsis can rapidly spread and cause shock and multiple organ failure.
  • The fusion of the fingers and the changes in the joints. Severe forms of epidermolysis bullosa can join the fingers or toes, and unusual cause bending of the joints (contractures). This can affect the function of the fingers of the hands, knees and elbows.
  • Problems with nutrition. Blisters in the mouth can make eating difficult and lead to malnutrition and anemia, such as low levels of iron in the blood. Problems with the nutrition it can also cause a delay in the healing of the wound and the slowing of growth in children.
  • The constipation. The difficulty to expel the stool could be due to painful blisters in the anal area. It can also be caused by not getting enough liquids or foods that are high in fiber, such as fruits and vegetables.
  • Dental problems. Tooth decay and the problems with the tissues inside the mouth are common with some types of epidermolysis bullosa.
  • The skin cancer. Adolescents and adults with certain types of epidermolysis bullosa are at greater risk of a type of skin cancer called squamous cell carcinoma.
  • Death. Infants with severe union of epidermolysis bullosa are at high risk of infection and loss of body fluids from widespread blistering. Blisters in the mouth and throat and also make it more difficult to eat and breathe. Many of these babies do not survive.

Prevention

It is not possible to prevent the epidermolysis bullosa. But these steps can help to prevent blisters and infection.

  • Manage your child gently. Your baby or child is in need of pampering, but be very gentle. To pick up a child with epidermolysis bullosa, place the child in a soft material, and provide support under the buttocks and the back of the neck. Do not lift the child under the arms.
  • Take special care with the diaper area. If your child wears diapers, remove the elastic bands and avoid cleansing wipes. Cover with a dressing, non-adherent or spray it with a thick layer of zinc oxide paste.
  • Keeping the environment of the house cool. Try to keep your home fresh and the temperature constant.
  • Keep the skin moist. Gently apply the moisturizer during the day.
  • Dress your child in clothing that is soft. Use soft clothes easy to put on and remove. This can help to remove the labels and put on the clothes of the seam on the outside to reduce scratching. Try sewing a foam pad in the lining of the clothing at the elbows, knees, and other pressure points. Soft use of special shoes, if possible.
  • Prevent scratches. Trim your child's fingernails on a regular basis.
  • Encourage your child to be active. As your child grows, to promote activities that reduce the risk of injury to the skin. Swimming is a good option. For children with mild forms of epidermolysis bullosa, which can protect the skin by wearing long pants and sleeves for outdoor activities.
  • Cover hard surfaces. Consider the possibility of filling a car seat or bath tub with sheepskin, foam or a thick towel. Soft cotton or silk can be used as a top layer over the filling.

Diagnosis

Your health care provider can identify the epidermolysis bullosa of the appearance of the skin. You or your child may need tests to confirm the diagnosis. Tests may include:

  • Biopsy by immunofluorescence mapping. With this technique, a small sample of the affected skin or mucous membrane is removed and examined under a special microscope. Uses the reflected light to identify the layers of the affected skin. This test also identifies whether the proteins necessary for the growth of the skin are present and healthy.
  • The genetic testing. With this test, the doctor takes a small sample of blood and is sent to a lab for DNA analysis.
  • Prenatal testing. Families with a history of epidermolysis bullosa may want to consider the possibility of prenatal testing and genetic counseling.

Treatment

The treatment of epidermolysis bullosa first, you can include lifestyle changes and home care. If these do not control the symptoms, your doctor may suggest one or more of the following treatments:

Drugs

Medications can help control the pain and the itching. Your doctor may also prescribe pills to combat the infection (oral antibiotics) if there are signs of generalized infection, such as fever and weakness.

Surgery

Surgical treatment may be necessary. The options are sometimes used for this condition include:

  • Widening of the esophagus. Blistering and scarring of the long, hollow tube that extends from the throat to the stomach (esophagus) can lead to a narrowing of the tube. This makes it difficult to eat. Making the tube more spacious with the surgery can make it easier for the food to travel to the stomach.
  • The placement of a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy). it may be necessary to deliver the food directly to the stomach.
  • A skin graft. If scarring has affected the function of a hand, the surgeon may suggest a skin graft.
  • The restoration movement. Repeated blistering and scarring can cause the fusion of the fingers of the hands or feet, or unusual curves in the joints (contractures). A surgeon may recommend surgery to correct these conditions, if one restricts the movement.

Rehabilitation therapy

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

Potential future treatments

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

  • The gene therapy, including a gel applied to the wounds of people with dystrophic epidermolysis bullosa
  • The bone marrow (stem cell) transplantation
  • Replacement therapies of the protein
  • Other cell-based therapies

Lifestyle and home remedies

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

Care for blisters

Your healthcare provider can show you how to care for blisters correctly and advise on the methods of prevention. Ask about safe ways to drain the blisters before they become too large. Ask about the recommended products for the maintenance of the areas affected by the moisture. This helps with the healing and prevention of infection.

In general, follow these steps:

  • Wash your hands. Wash your hands before touching the blisters or change the bandages.
  • The Control of pain. About 30 minutes before a change of dressing or another painful procedure, older children and adults can take a prescription-strength pain medication. For people who do not respond to analgesics, other options include anti-seizure drugs such as gabapentin.
  • Clean the skin on a daily basis. To clean a wound, soak it for 5 to 10 minutes in a mild solution of water and salt. Other options are mild solutions of diluted vinegar or bleach. Soaking loosens stuck bandages and helps to reduce the pain of dressing changes. Rinse with lukewarm water.
  • Puncture new blisters. This prevents them from spreading. The use of a sterile needle to prick each new blister in two points. But let the roof of the blister intact to allow for drainage, while the protection of the underlying skin.
  • Apply treated with dressings. Spread petroleum jelly or other thickness of the moisturizer in a non-stick dressing (Mepilex®, Telfa, Vaseline gauze). Then, gently place the bandage over the wound. Secure the bandage with gauze wound if necessary.
  • Wrap blisters on the hands and feet daily. With some severe forms of this disease, journal wraps help prevent contractures and the fusion of the fingers of the hands and feet. Special bandages and gauze dressings are useful for this treatment.
  • Watch for signs of infection. If you notice the heat, pus, or of the main lines of the blister, talk with your health care provider about the prescription of antibiotics.
  • Keep it fresh. Blisters is often aggravated by the heat and the heat.

Provide good nutrition

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

  • For babies with mild epidermolysis bullosa, breastfeeding is well. Otherwise, minimize injury from the power supply through the use of bottle nipples, designed for premature babies, a syringe or a rubber-tipped medicine dropper. Try softening the teats of the bottle in boiled hot water.
  • For older children, serve nutritious, bland foods that are easy to swallow, as the vegetable soup and fruit smoothies. Pureed solid foods with broth or milk.
  • Serve food and beverages warm, room temperature or cold.

Talk with your health care provider about how you or your child can get all the necessary nutrients and vitamins.

Coping and support

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

Treatment and prevention of blisters and concerns 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 you join a support group is not for you, ask about the counselors, clergy or social workers who work with families coping with epidermolysis bullosa.

Ask your health care provider to suggest stress-reducing resources or consult with a psychologist to learn stress-reduction techniques. These approaches can 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 the EB-Clinet. These centers are staffed with physicians, nurses, social workers, and rehabilitation specialists that provide specialized care for people with this condition.

Visit to a facility regularly you can improve the quality of life and reduce hospitalizations for complications for people with epidermolysis bullosa. Ask your health care provider if specialized epidermolysis bullosa center is available to you.

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

What you can do

  • List of you or your child has signs and symptoms and how long they have been present.
  • Note any new sources of friction around the formation of blisters areas, if any. For example, tell your doctor if your child has recently started to walk, or to his eldest son has begun the physical activities that put new pressure on the affected areas.
  • The list of medical information, including other medical problems you or your child has received a diagnosis of. Also list the names of all the-counter medications and prescription drugs that you or your child is taking. Also the list of vitamins and supplements.
  • Ask a trusted family member or friend to join you for the appointment. If your doctor tells you that your child has epidermolysis bullosa, you may have difficulty to focus on any other thing that he said. Having someone who can offer emotional support and help you to remember all information that was discussed at the appointment.
  • List of questions to ask your health care provider.

Questions to ask your doctor

  • What is the most likely cause of the signs and symptoms?
  • What are other possible causes of these signs and symptoms?
  • What kind of proof do you need?
  • What treatments are available, and what kinds of side effects they might cause?
  • What can you do to relieve the 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 ask me to call you?
  • What are the signs or symptoms should prompt me to call 911 or my local emergency number?
  • What restrictions do we need to follow?
  • Do you think that the symptoms of my son is going to improve with age?
  • If I have the intention of having more children, are at greater risk of this condition?
  • How do I find other people who are dealing 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 a series of questions. Be prepared to answer questions such as the following may reserve time to go over any points you want to talk in depth about:

  • When did you first notice the formation of blisters?
  • What parts of the body have been affected?
  • Is there anything in particular seem to cause the formation of blisters? For example, is made worse by the heat?
  • You have sores developed in bandages and adhesive tape have been applied?
  • Have you noticed any other signs or symptoms in addition to the formation of blisters? For example, a hoarse voice?
  • What to eat or swallow it cause pain?
  • Someone in your family had a condition marked by a large blisters?

What you can do in the meantime

In the time prior to your appointment, you can minimize the risk of your child developing new blisters by:

  • Elevation or touching the child very gently
  • Keep your home constantly fresh if possible
  • Keep your child's skin wet with lubricants, such as vaseline
  • Dress your child in only soft materials
  • Keep your child's fingernails short

Call your health care provider immediately if you notice signs of infection around the blister.

Symptoms and treatment of epidermolysis bullosa