Is there a test for epidermolysis bullosa?

There is no one test for epidermolysis bullosa. To see if you have the disease, doctors may:

  • Ask about your family and medical history, because most types of epidermolysis bullosa are passed down in families.  
  • Do a physical exam and look at the skin closely, which can help doctors identify where the skin is separating to form blisters.
  • Perform a skin biopsy, which helps doctors identify which layers of the skin are affected and determine the type of epidermolysis bullosa you have.
  • Order genetic testing to identify specifically which gene mutations you may have. 

How is epidermolysis bullosa treated?

There is no cure for epidermolysis bullosa. The goals of treatment are to prevent and control symptoms by:

  • Managing pain and itch with medications.
  • Protecting skin and caring for blisters and wounds, such as by using appropriate bandages and changing them when needed.
  • Treating and preventing infection by using antibiotics and washing your hands before caring for your skin or changing bandages.
  • Maintaining or improving your ability to move areas of your body that may have tightened.
  • Finding recipes and foods that are easy to chew, swallow, and digest.

Who treats epidermolysis bullosa?

You may see one of the following types of doctors:

  • Dermatologists, who specialize in conditions of the skin, hair, and nails.
  • Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
  • Nurse educators, who specialize in helping people understand their overall condition and set up their treatment plans.
  • Occupational therapists, who teach how to perform activities of daily living safely.
  • Pediatricians, who diagnose and treat children.
  • Physical therapists, who teach ways to build muscle strength while keeping the skin protected.
  • Primary care physicians, who diagnose and treat adults.
  • Registered dietitians, who teach about nutrition and meal planning. 

Living with epidermolysis bullosa

Living with epidermolysis bullosa can be hard; however, you can take steps to care for your skin to help prevent blisters from forming and get help to cope.

Your doctor may recommend the following:

  • Keep your skin cool. Never apply anything hot to the skin, and avoid using water warmer than your body temperature when bathing.
  • Wear loose-fitting, soft clothing to avoid rubbing against the skin.
  • Keep rooms at a cool, even temperature.
  • Apply lotions, creams, or ointments to the skin to reduce rubbing and keep the skin moist.
  • Use sheepskin on car seats and other hard surfaces.
  • Wear mittens at bedtime to help prevent scratching while asleep.

You may find it helpful to find a community or online support group. Some people may find it helpful to speak to a mental health professional about coping with the disease.