What is EB

What is Epidermolysis Bullosa?

Epidermolysis Bullosa is a genetic skin blistering condition that affects over 500,000 children and adults around the world, 5000 of those in the UK. It has a devastating impact on sufferers and their families. It causes pain for every second, in every minute, of every day and is unrelenting in the distress it causes. Children with EB are known as ‘Butterfly Children’ because their skin is said to be as fragile as the wings of a butterfly.

EB affects both sexes and every racial and ethnic background equally, and results from a genetic mutation in one of the genes that have been found to cause the disorder. The proteins that ‘glue’ skin layers together are defective or missing. The slightest friction on this fragile skin causes blistering, skin loss, sores and open wounds burns all over the body, internally and externally, meaning sufferers never have a moment’s rest from pain. 

There are four main types: Simplex, Junctional, Dystrophic and Kindler Syndrome.

Milder forms of EB cause extensive pain and blistering but do not disfigure and are not lethal. 

Severe forms cause death in the first few months of life (JEB generalized severe) or mitten deformities (pseudosyndactyly), extensive skin loss (like burns), anaemia, difficulty swallowing, microstomia (small mouth opening), corneal scarring (sometimes blindness), malnourishment, and eventual death from skin cancer usually between the ages of 20-30 years. 

Why haven’t you heard of it?

There is currently no effective treatment and no cure, and as a relatively rare condition, it has been easy to ignore. The standard of care is daily management involving pricking blisters and dressing wounds whilst trying to address the immense pain and nutritional needs.

EB is one of the more than 6000 genetic conditions in the world today, a fraction of these now have approved treatments. Whilst individually it is relatively rare, collectively genetic conditions account for 30 million people in Europe alone and 70% of hospitalisations worldwide. Anyone who has seen the distress EB causes knows that effective treatments cannot come soon enough. We, as a rare disease group, will learn from each other and help cure other genetic conditions by following similar paths in research.

What research is being done into the condition? 

Areas of research for the treatment of EB fall broadly into the following categories:

1) Gene therapy

2) Cell therapy

3) Drug therapy

4) Protein therapy

5) EB cancer therapy

There are a number of early phase clinical trials happening around the world aiming to combat different aspects of the condition and phase 3 trials being conducted by biotechs. In 2022, the first wound healing cream for dystrophic and junctional EB was approved by the European Commission.

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