Epidermolysis bullosa is a group of disorders in which skin blisters form after a minor injury. It is passed in families.
Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
Causes, incidence, and risk factors
There are four main types of epidermolysis bullosa:
Dystrophic epidermolysis bullosa
Epidermolysis bullosa simplex
Hemidesmosomal epidermolysis bullosa
Junctional epidermolysis bullosa
Another rare type of epidermolysis bullosa called epidermolysis bullosa acquisita, is an
Epidermolysis bullosa can vary from minor blistering of the skin to a life-threatening form that affects other organs. Most types of condition start at birth or soon after. It can be hard to identify the exact type of epidermolysis bullosa a person has.
Having a family history of the disease, and especially having a parent with it, is a risk factor.
Depending on the form of the condition, symptoms can include:
- Blisters aound the eyes and nose
- Blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty
Blisterson the skin as a result of minor injury or temperature change
- Blistering that is present at birth
- Dental problems such as tooth decay
- Hoarse cry, cough, or other breathing problems
Milia(tiny white bumps or pimples)
- Nail loss or deformed nails
Signs and tests
Your doctor will look at your skin to diagnose epidermolysis bullosa.
Tests that are used to confirm the diagnosis include:
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.
Other tests that may be done include:
Blood test for anemia
Culture to check for bacterial infection if wounds are healing poorly
Upper endoscopyor an upper GI seriesif symptoms include swallowing problems
Growth rate will be checked often for a baby who has or may have epidermolysis bullosa.
The goal of treatment is to prevent blisters from forming and avoiding complications. Other treatment will depend on how bad the condition is.
- Take good care of your skin to prevent infections.
- Follow your health care provider’s advice if blistered areas become crusted or raw. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use.
You may need to use oral steroid medicines for short periods of time if you have swallowing problems. You may also need to take medicine if you get a candida (yeast) infection in the mouth or throat.
Take good care of your oral health and get regular dental check ups. It is best to see a dentist who has experience treating people with epidermolysis bullosa.
Eat a healthy diet. When you have a lot of skin injury, you may need extra calories and protein to help your skin heal. Choose soft foods and avoid nuts, chips, and other crunchy foods if you have sores in your mouth. A nutritionist can help you with your diet.
Do exercises you get from a physical therapist to help keep your joints and muscles mobile.
Skin graftingin places where sores are deep
- Dilation of the esophagus if there is a narrowing (stricture)
Repair of hand deformities
Removal of any squamous cell carcinoma that develops
- Medicines that suppresses the immune system may be used for the autoimmune form of the condition.
- Protein and gene therapy and the use of the drug interferon are being studied.
The outlook depends on the severity of the illness.
Infection of the blistered areas (
Mild forms of epidermolysis bullosa improve with age.Very serious forms of epidermolysis bullosa have a very high mortality rate.
In the severe forms, scarring after blisters form may cause:
Contracture deformities(for example, at the fingers, elbows, and knees) and other deformities
Swallowing problems if mouth and esophagus are affected
Fused fingers and toes
Limited mobility from scarring
- Reduced life span for severe forms of the condition
- Eye problems, including blindness
- Infection, including
- Loss of function in the hands and feet
Muscular dystrophy Periodontal disease
- Severe malnutrition caused by feeding difficulty, leading to
failure to thrive Squamous cell skin cancer
Calling your health care provider
If your infant has any
Genetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa.
To prevent skin damage and blistering, it may help to wear padding around injury-prone areas such as the elbows, knees, ankles, and buttocks. Contact sports should be avoided.
Patients with epidermolysis bullosa acquisita who are on steroids for longer than 1 month may need calcium and vitamin D supplements to prevent