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About EB

About EB

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

People with EB have a faulty gene, which means the skin cannot bind together, so any trauma or friction can cause painful blisters, which results in open wounds and scarring. It can also affect internal linings and organs.

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, ranging from the mildest, in which only the big toes are affected, to the most severe, which can have a devastating effect on any part of the body, causing lifelong disability and pain, and in some cases can sadly be fatal.

''I have to fit my job around a time consuming daily routine of painkillers and dressing changes but I don’t let my EB stop me. I never want people to see me as a victim. I want to empower people to feel inspired.''  - Myra, living with DEB

 

How do people get EB?

EB is caused by a faulty gene (gene mutation). Our genes are made up of DNA, some of which contain the instructions to make essential proteins which bind the layers of our skin together.

Every person has two copies of each gene – one inherited from each parent. Gene mutations are permanent alterations in the DNA sequence contained within each gene, and this gene mutation is what causes genetic conditions like EB. Whether one or both genes in a pair are faulty or mutated is what dictates whether it is dominant or recessive EB.

In EB, the gene mutation causes the protein to become faulty, or in some cases the protein is missing altogether. This is what causes the skin to become fragile and break apart easily. The faulty gene(s) and missing protein occur at different layers in the skin, which is what dictates the type of EB

 

Dominant Vs Recessive explained:

EB may be inherited as either dominant (only one copy of the gene is faulty and becomes the dominant gene) 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 suffering from 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.

Very 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.

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

 

Different types of EB

There are currently 30 different subtypes of EB, with more than 16 genes known to underly these subtypes. These 30 subtypes currently fall under one of five main EB types identified according to where the faulty or missing protein is located within the different layers of skin.

  • EB Simplex (EBS) - The most common and mild-moderate form of EB, whereby the missing protein and fragility occurs within the upper layer of the skin – the epidermis.
  • Junctional 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.
  • Dystrophic EB (DEB) - Can be mild or severe. The missing protein and fragility occurs below the basement membrane within the superficial dermis.
  • Kindler EB - 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.
  • EB Acquisita (EBA) - Is classified as an autoimmune disease, meaning the body’s immune system starts to attack healthy body tissue. It is not known exactly what causes EBA but it is extremely rare.

 

Symptoms of EB

The symptoms 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 the most 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.

The following video provides a little insight into what life with EB can feel like.

 

How is EB diagnosed?

Laboratory diagnosis is essential to determine the faulty gene and missing protein 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. Read more on the different methods of diagnosis here.

 

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 both 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. If you are living with EB, please speak to your healthcare provider about treatment options and find out how we support the EB community here.

 

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 they face.

EB Awareness Week 2020

Join our campaign during EB Awareness Week - 25th - 31st October 2020 to increase awareness of this devastating condition. Just doing one small thing can make a big difference - share our EB hero stories on social media throughout the week. Learn more about our campaign.