Explaining Epidermolysis Bullosa

Epidermolyis Bullosa is a genetic skin condition which is characterised by blistering and shearing of the skin.  In EB, there is a weakness in the anchors that hold the skin layers together, which means that the skin layers separate easily, forming blisters and open wounds.

To date, 22 different types of EB have been identified and these are grouped into 3 major types;   EB Simplex, Junctional EB and Dystrophic EB.

EB is a genetic skin disorder, which means it is inherited or your genetic structure has mutated, you cannot catch it.  It can be inherited in both dominant and recessive forms.

Each type of EB has its own symptoms, and these can also vary from person to person.  In general the following symptoms are associated with each of the major types:

• EB Simplex: (dominantly inherited)

  The defect in the skin occurs in the epidermis.  Blisters can occur all over the body and mucosal linings, or may be restricted to certain areas of the body such as hands and feet.  Blisters usually heal quickly and without scarring.

• Dystrophic EB :  (dominant & recessive)

  Dominant Dystrophic EB is usually less severe than the recessive form, blisters may be generalised or restricted to hands, feet, elbows and knees, there may be swallowing difficulties, and thickening of nails.  Blisters usually occur in response to knocks or mechanical trauma, scars rarely cause deformity or immobility.

• Recessive Dystrophic EB:

  Blisters can occur all over the body including inner linings from mouth to anus, blisters usually heal with scarring, and over time, this scarring can lead to immobilisation of fingers and toes and contraction of joints.  Large areas of skin may be absent at birth.

• Junctional EB:  (recessively inherited)

  Appears in two forms, mild and severe.  In severe types, large areas of the body may be affected and sadly, this type is usually lethal in early childhood.  In the mild form, severity of the condition may lessen over time.

The above information is taken from "Coping with EB: A guide for affected adults", 1992, produced by DEBRA UK and "Living with Epidermolysis Bullosa", 1984, U.S Department of Health & Human Services. These explanations are brief and generalised.  For specific information relating to your condition or your child’s condition is it important that you seek advice from a health professional.

• A study was conducted in Scotland in 1995 and from this it has been estimated that about 1 in 20,000 people have some form of EB.  In Australia, this means that we have approximately 1000 people with EB.  An epidemiological study has not been conducted in Australia.

• Currently there is no cure for EB but research is continuing and recent developments give hope for the possibility of a breakthrough in the area of gene therapy.  

• At present treatment is largely confined to relieving symptoms and preventing complications, the methods of which vary according to the type of EB involved.