What is the Diagnosis of Epidermolysis Bullosa

By  ,  Onlymyhealth editorial team
Jan 25, 2013
Quick Bites

  • Your doctor will look at your skin to diagnose epidermolysis bullosa.
  • Genetic testing, and special tests of skin samples are also done.
  • Skin tests are used to differentiate epidermolysis bullosa from other forms.
  • Growth rate will be checked for a baby at risk of epidermolysis bullosa.

Epidermolysis bullosa is a group of skin conditions whose hallmark is blistering in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. Four main types of epidermolysis bullosa exist, with numerous subtypes. Most are inherited.

Diagnosis of Epidermolysis Bullosa

Your doctor will look at your skin to diagnose epidermolysis bullosa.

Tests that are used to confirm the diagnosis include:

  • Genetic testing
  • Skin biopsy
  • Special tests of skin samples under a microscope
  • Skin tests are used to tell epidermolysis bullosa acquisita in a child from other forms of epidermolysis bullosa.

Epidermolysis Bullosa

Other tests that may be done include:

  • Blood test for anemia
  • Culture to check for bacterial infection if wounds are healing poorly
  • Upper endoscopy or an upper GI series if symptoms include swallowing problems
  • Growth rate will be checked often for a baby who has or may have epidermolysis bullosa.


When to Contact a Medical Professional

If your infant has any blistering shortly after birth, call your health care provider. If you have a family history of epidermolysis bullosa and plan to have children, you may want to have genetic counseling.

Write down any signs and symptoms your child has been experiencing, and for how long.

Note any new sources of friction around the blistering areas, if any. For example, tell your doctor if your toddler has recently started walking or your older child has begun physical activities that put new pressure on the affected areas.

Write down key medical information, including other medical problems with which your baby or child has been diagnosed. Also list the names of all over-the-counter and prescription medications your child is taking, as well as any vitamins or supplements.

Ask a trusted family member or friend to join you for your child's appointment. If your child is diagnosed with epidermolysis bullosa, you may have difficulty focusing on anything the doctor says after making the diagnosis. Take someone along who can offer emotional support and can help you recall all the information.

Write down the questions you want to be sure to ask your doctor.

Mild forms of epidermolysis bullosa improve with age.Very serious forms of epidermolysis bullosa have a very high mortality rate.

Image Courtesy: Getty

Read more articles on Epidermolysis Bullosa.


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