Epidermolysis Bullosa

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Epidermolysis Bullosa

What is epidermolysis bullosa?

Epidermolysis (ep-ih-dur-MOL-uh-sis) bullosa (EB) is a group of rare, incurable diseases that cause skin to blister. In severe cases, blisters can develop in the mouth or stomach lining. Blisters can develop after friction, such as a minor injury, or from heat, rubbing or scratching. EB cases can range from a minor inconvenience that requires the patient to modify some activities, to complete disability, even death.

Most types are inherited, and begin in infancy or early childhood. It can also develop in adolescence or adulthood, and mild cases can get better with age. Caring for the blisters or other wounds, preventing new blisters, bandaging and pain management are the focus of treatment for EB.

Causes

What causes epidermolysis bullosa ?

EB is an inherited disease that’s passed on to a child from one or both parents. It can also appear in a patient as a new mutation that can be inherited by their children. If a child receives one normal and one gene for EB, they will be a carrier of EB, but in most cases will not develop symptoms. However, if both parents have the EB gene, their children will have a 25 to 50% (depending on the type) chance of developing EB. Parents who are close relatives have a higher chance of both having the abnormal gene.

Friction is what causes EB blisters to develop. Any trauma, no matter how small, often causes EB patients’ skin to tear and/or form blisters. 

Who’s at risk for epidermolysis bullosa?

Anyone who has family members with the disease, especially one or both parents. 

Are there different types of epidermolysis bullosa?

Yes, the different types are defined by the layer of skin where the blisters form. The outer layer of skin is the epidermis; the underlayer is the dermis. Between the layers there is a “basement membrane.” Types of EB include:

  • Epidermolysis bullosa simplex, the most common type, affects the outermost layer of skin (epidermis). Blisters develop on the palms of the hands and soles of the feet, but usually heal without scarring. 
  • Junctional epidermolysis bullosa affects the basement membrane layer of skin. It begins in infancy and can be severe. Infants can have a hoarse cry due to continual blistering and scarring of their vocal cords. It often causes death due to blood infection (sepsis), malnutrition, dehydration, electrolyte imbalance or an obstructed airway. 
  • Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce collagen in the inner layer of skin (dermis). Collagen gives strength to the dermis layer. If it’s missing or not functioning correctly, the layers of skin do not join properly. Blisters occur in the inner layer of skin.
  • Dominant dystrophic epidermolysis bullosa (DDEB) is usually mild with blistering on hands, feet, elbows and knees. Other symptoms include scarring, tiny white bumps, and abnormally formed or missing nails.
  • Recessive dystrophic epidermolysis bullosa is more severe than DDEB. In addition to DDEB symptoms, this type can cause malnutrition, anemia, narrowing of the throat/esophagus, retarded growth in children, webbing of the fingers or toes causing a loss of function, deformities, malformed teeth, and eye problems.
  • Kindler syndrome is extremely rare, causing very fragile skin, and involving all layers of skin.

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Symptoms

What are symptoms of epidermolysis bullosa?

EB symptoms vary according to the type you have. Symptoms common to most types of EB include:

  • Fragile or thin skin
  • Easy blistering on the hands, feet, or mouth, or throat in severe cases
  • Blisters on the scalp that can cause hair loss
  • Itchy painful skin
  • Thick fingernails or nails that don't form
  • Thick skin on the palms and soles of the feet
  • Tiny white bumps or pimples
  • Tooth decay from poorly formed tooth enamel
  • Difficulty swallowing

In more severe forms of EB, blisters can form on the surface of the eye, and inside the gastrointestinal tract (from the mouth to the anus), lungs, or genital or urinary tracts. Disfiguring scars, and disabling muscle and bone deformities can also occur. 

Severe blistering can be life-threatening for infants. Get immediate medical attention if an EB patient has problems swallowing or breathing, fever and chills, or signs of a skin infection (warm, red, painful or swollen skin).

Severe EB cases can cause complications, including:

  • Bacterial infections that develop from blisters.
  • Sepsis can happen if bacteria enter the blood and spread throughout the body, causing shock and organ failure. Sepsis happens very quickly and can be life-threatening.
  • Abnormal bending or fusion of fingers, toes or joints (contractures), affecting their ability to function normally.
  • Malnutrition and/or anemia due to eating problems caused by mouth blisters. Vitamin and mineral deficiency can predispose patients to osteoporosis and enlarged heart. Malnutrition can delay wound healing and slow growth in children. Children with a failure to thrive may require a feeding tube into their stomach (gastrostomy).
  • Constipation caused by painful blisters in the anal area, and inadequate intake of liquids and high-fiber foods.
  • Dental problems and tooth decay caused by mouth blisters.
  • Squamous cell carcinoma (skin cancer) is the leading cause of death for EB patients ages 11-20.

Diagnosis

How is epidermolysis bullosa diagnosed?

Your doctor may diagnose EB by examining your skin, and using lab tests to confirm the diagnosis. Lab tests may include:

  • Skin biopsy can identify the layers of skin that are involved, and if skin growth proteins are functioning properly.
  • Genetic testing (via a blood sample) is helpful because most types of EB are inherited.
  • Prenatal testing is important for families who have a history of EB.

Treatment

Are there treatment options for epidermolysis bullosa?

Symptoms of mild EB can be managed at home with lifestyle changes. Moderate to severe cases may require medications, surgery or rehabilitation. Severe cases often continue to get worse even with treatment. If serious complications occur, they can be fatal.

  • Home care includes:
  1. Manage blisters and prevent development of new ones. EB blisters can grow quite large, fill with fluid, and need to be drained. Wash hands before touching blisters. Talk with your doctor about taking pain medication before changing dressings or other painful care. Soak the wound for up to 10 minutes in a mild solution of salt and water, or diluted bleach or vinegar. This loosens bandages and reduces the pain of changing them. Rinse with lukewarm water. Check for signs of infection (redness, heat or pus). Use a sterile needle to puncture each blister in two spots, leaving the skin intact to protect the skin. Apply the prescribed substance to keep the area moist. Use non-adhesive pads and rolled gauze to keep in place. Severely blistered hands and feet can be wrapped daily to prevent fusion of fingers and toes, and help prevent contractures.
  2. Reduce friction on skin by touching it very carefully, and wearing loose clothing. Wear clothing wrong-side out if blisters develop along seams. Remove tags, cuffs and necklines, and wear loose, padded shoes. 
  3. Keep skin cool. Never allow anything hot to touch an EB patient’s skin. Bath water should be body temperature. Avoid hot outdoor temperatures and high humidity, opting for air conditioning whenever possible. 
  4. Avoid nutritional deficiencies. EB patients can have inadequate food intake (due to blisters in the mouth and throat), anemia (from chronic loss of blood through wounds), poor iron absorption, bone marrow suppression (from chronic inflammation), and deficiencies of vitamin D, selenium and carnitine. 
  5. Regularly monitor for skin cancer. 
  • Medications may be needed to control pain and itching. Antibiotics may be required to treat skin infections or sepsis. 
  • Surgery may be needed for:
  1. Skin grafts, if scarring has caused impaired hand mobility and function. 
  2. Dilating the esophagus, if blisters and scarring have caused it to narrow, making swallowing difficult.
  3. Inserting a feeding tube in the stomach to improve nutrition and weight gain.
  4. Restore function and mobility of fingers and toes that have developed contractures or become fused together due to repeated blistering and scarring.
  • Rehabilitation therapy can be helpful to restore mobility of areas that have been badly scarred or developed contractures.

References

Mayo Clinic. (July 2020). Epidermolysis Bullosa. Retrieved 9-9-21, {https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062}
National Organization for Rare Disorders. (2013). Epidermolysis Bullosa. Retrieved 9-9-21, {https://rarediseases.org/rare-diseases/epidermolysis-bullosa/}

Information

Medically reviewed by:

Dr. Javeed Siddiqui, MD, MPH

Dr. Siddiqui is the Chief Medical Officer at TeleMed2U responsible for clinical and technical program development as well as maintaining a thriving telemedicine practice in infectious diseases which includes specialized care of Hepatitis and HIV.

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With Insurance

Dermatology

Your copay
Depending on insurance

Without Insurance

Dermatology

$89

Initial Visit

$75

Follow Up