Infographic about what is EB.

Epidermolysis bullosa (EB) is the name for a group of painful genetic skin conditions that cause the skin to become very fragile and tear or blister at the slightest touch.

The name comes from ‘epiderm’ - the outer layer of skin, ‘lysis’ - the breakdown of cells and ‘bullosa’ - blisters.

There are many different types of EB, all classified under four main types ranging from the mildest, in which only the hands and feet are affected, to the most severe, which can have a devastating effect on any part of the body causing lifelong disability and pain. In severe cases EB can sadly be fatal.

EB is not contagious and cannot be passed on through contact.

Our animation illustrates what life can be like for people living with EB but also shares the opportunity that exists to radically improve quality of life through drug repurposing.

Learn even more about how EB affects people differently by reading and watching stories from our members.



How do people get EB?  

Damaged DNA

EB is inherited through a faulty gene (gene mutation), which means the skin cannot bind together, so any trauma or friction can cause painful blisters, which result in open wounds and scarring. It can also affect internal linings and organs. 

Every person has two copies of each gene – one from each parent. Each gene is made up of DNA, which contains the instructions to make essential proteins, some of which bind the layers of our skin together. Gene mutations (faulty genes) are permanent alterations in the DNA sequence. In EB, the faulty gene means the affected area lacks the essential protein responsible for binding the skin together, causing it to break apart easily. 

EB can be dominant or recessive, depending on whether one or both genes in a pair are faulty.

The faulty gene(s) and missing protein can occur at different layers in the skin, which is what dictates the type of EB. 


Different types of EB 

There are currently many different subtypes of EB, with multiple genes known to underly these subtypes. These subtypes currently fall under four main EB types identified according to the location of the faulty gene and missing protein within the different layers of skin.

Click below to understand the symptoms and characteristics of each type.

Layer of skin affected in EBS graphic

EB simplex (EBS)

The most common and usually mild-severe form of EB whereby the missing protein and fragility occurs within the upper layer of the skin – the epidermis. 70% of all EB cases are EB Simplex.


Can be mild or severe (dominant or recessive). The missing protein and fragility occurs below the basement membrane within the superficial dermis. 25% of all EB cases are Dystrophic EB.



Skin layer affected by Junctional EB (JEB) graphicJunctional EB (JEB)

A rare moderate-severe form of EB, whereby the missing protein and fragility occurs with the structure that keeps the epidermis and dermis layers together - the basement membrane. 5% of all EB cases are Junctional EB.


Skin layer affected by Kindler EB (KEB) graphic

Kindler EB (KEB)

Named so due to the defective gene being responsible for the information required to produce the protein Kindlin1. This type of EB is very rare but fragility can occur at multiple levels of the skin.


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Symptoms of EB 

Layers of skin graphicSymptoms can be varied and can be mild to severe depending on the type of EB. Common symptoms are:

  • the slightest touch can cause painful tearing and blistering of the skin 
  • the healing of the blisters can cause pain, severe itching and scarring
  • in mild forms of EB, blistering may mainly occur on the hands and feet causing problems with walking and other daily activities
  • widespread blistering in more severe cases can make the skin vulnerable to infections and extensive scarring can occur
  • in severe cases the blistering can occur all over the body and even on internal organs. It can also mean a higher risk of developing skin cancer
  • the main challenge people with EB face on a daily basis is the pain and itching that occurs as a result of the blistering.  

How is EB diagnosed? 

Laboratory microscope

Laboratory diagnosis is essential to identify and locate the faulty gene, which will determine the type of EB. Skin sample analysis can be done initially and is often the first step with newborn babies. Prenatal testing is also possible.  

Neo-natal teams, GPs, Dermatologists or the EB specialist healthcare teams will be able to advise which method of diagnosis is most suitable in individual circumstances. You can read more on the different methods of diagnosis here. 

If you or a family member have recently been diagnosed with EB, we can help get you the support you need, please contact our Community Support Team.


Dominant and Recessive explained 

EB may be inherited as either dominant (only one copy of the gene is faulty) or recessive (both copies of the gene are faulty).  

  • In dominant EB, a single copy of the gene is inherited from one parent, meaning the other copy of the same gene from the other parent is normal. The parent that carries the gene is usually affected by the condition themselves and there is a 50% chance of passing it on to children. Dominant EB types are usually milder than recessive types. 
  • Recessive EB is where two copies of the same gene are inherited – one from each parent. The chances of developing recessive EB is 25%. The birth of a child with the recessive form is usually totally unexpected since both parents can carry the EB gene without displaying the condition themselves.  Recessive EB is usually more severe.
  • EB can also arise through a spontaneous mutation – neither parent carries EB but the gene mutates spontaneously in either the sperm or the egg before conception.
  • Rarely, a severe form of EB can be “acquired” as the result of autoimmune disease, where the body develops antibodies to attack its own tissue proteins.

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How is EB treated? 

There is currently no known cure for EB but there are treatments aimed at helping alleviate some of the debilitating symptoms. At DEBRA UK, our work is focused on funding research to find new treatments and a cure, as well as providing support to people living with EB to enhance their quality of life through improved healthcare, access to information and respite care. Find out more about treatment options, how we support the EB community and the research projects we are funding.


What is it like living with EB? 

When you have EB, a lot of things are restricted. You have to think about every single thing you do. Other children don’t have to do that.

Fazeel, living with DEB

Hear from our members about what EB means to them and how they overcome the many challenges EB can bring. 

What should I do if I think I have EB?

If you suspect you have a form of EB, you can visit your local GP, if they also suspect that you may have EB, they can refer you to one of the 4 EB nationally commissioned specialist centres where a skin specialist (dermatologist) will carry out tests to determine whether you have EB and the specific type, and to determine a treatment plan. They may take a small sample of skin (biopsy) to send for testing. 

To support your GP in identifying whether you have EB or not, and to ensure that they refer you to the correct EB specialist healthcare centre, our Community Support Team can provide you with a letter that you can share with your GP. To request one please contact [email protected]

Once you are officially diagnosed with EB, please do apply to become a DEBRA member so that you can benefit from the free support that is available to the EB community through DEBRA.



What is EB? infographic - A snapshot of the key characteristics of EB
What is EB? booklet - A comprehensive booklet about EB on DEBRA International website
Living with Butterfly Skin - Leaflet - An overview of EB and what DEBRA does
NHS website - general information on EB


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