Alternative MedicinesInfectionInjuries

Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of inherited diseases that are characterized by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. Blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.


The nonscarring forms of epidermolysis bullosa result from autosomal dominant inheritance, except for junctional epidermolysis bullosa (epidermolysis bullosa Herlitz or epidermolysis bullosa letalis), which is recessively inherited.

Except for dominant dystrophic epidermolysis bullosa, the scarring forms result from autosomal recessive inheritance. Sometimes, this disorder occurs as a mutation in families with no history of blistering disorders.


All forms of EB cause blisters on the skin, which in mild cases are localized to certain parts of the body and heal without permanently damaging the skin. More severe forms of EB can cause widespread blistering over large areas of skin leading to permanent scaring. If the fingers are severely affected the healing blisters could lead to fusion of the fingers with a resulting decrease in finger movements.

The inside of the mouth may blister, leading to discomfort and possibly restricting how wide the mouth can open. Blistering can also occur in the throat, affecting swallowing. Other mucosal areas, such as the eyes, vagina or anus can sometimes be affected.

Diagnostic tests

Skin biopsy using immunofluorescence and electron microscopy of a freshly induced blister is used to identify the type of epidermolysis bullosa. Fetoscopy and biopsy at 20 weeks' gestation is used to identify the severe scarring forms. (Diagnosis can't be confirmed by amniocentesis alone.)


Therapy is primarily supportive find preventive in nature. Phenytoin may be used to treat recessive dystrophic forms of epidermolysis bullosa; corticosteroids and retinoids may be used in other forms. Supportive treatment consists of guarding the skin from trauma and friction through application of protective dressings and skin lubricants. A high-calorie diet containing vitamin and mineral supplements helps combat chronic malnutrition, and iron supplements or transfusions help counteract anemia. Occupational and physical therapy help prevent contractures and deformities.


Genetic counseling is recommended for prospective parents with a family history of any form of epidermolysis bullosa.

During pregnancy, chorionic villus sampling to test the fetus is available. For couples at high risk of having an offspring with epidermolysis bullosa, the test can be done as early as week 8-10 of the pregnancy. Speak with your obstetrician and genetic counselor.

To prevent skin trauma and blistering, it may help to wear padding around trauma-prone areas like elbows, knees, ankles, and buttocks. Contact sports should be avoided.

Patients with epidermolysis bullosa acquisita who are on steroids for longer than one month may require calcium and vitamin D supplements to prevent osteoporosis.

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