Direction: Which Child Diseases Have No Cure, Research Donations

What do we know about Epidermolysis Bullosa?

Epidermolysis Bullosa (EB) is a group of rare, inherited genetic disorders causing extreme skin fragility and painful blisters from minor friction, often nicknamed "butterfly skin". Caused by gene mutations affecting skin anchoring proteins, it leads to severe blistering, scarring, and potential internal complications, with treatment focused on wound management and pain relief.

While there is no cure, some mild forms may improve with age, and many patients manage the disease through specialized wound care, pain management, and protective bandages. - a trend the organization is supporting families via their Hero Guardian Angel program.

Our Fast Cure Plan
Systemic research to treat the entire body, not just the skin. A full-body systemic cure is needed.
Gene therapy that will override mutated skin gene proteins with healthy gene proteins to stop the blistering and skin cancer. Healthy genes produce healthy skin proteins needed to keep the skin from blistering off.
Molecular research using affordable natural ingredients that can reduce inflammation, itching, and speed skin healing.

Our goal is to create an affordable, full-body systemic cure for our forgotten, medically neglected children. Most EB research done to date will end up costing way too much for all EB children around the world.

Because 500,000 people suffer with EB, any cure has to be affordable.

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Epidermolysis Bullosa (EB) is a group of rare, inherited genetic disorders causing extreme skin fragility and painful blisters from minor friction, often nicknamed "butterfly skin". Caused by gene mutations affecting skin anchoring proteins, it leads to severe blistering, scarring, and potential internal complications, with treatment focused on wound management and pain relief.
Debra of America
Debra of America
 +3
Key Aspects of Epidermolysis Bullosa
Causes and Types: EB is not contagious and is generally inherited in dominant or recessive patterns. It is caused by mutations in 18+ genes responsible for structural proteins (e.g., collagen VII) that anchor skin layers together.
Main Symptoms: Skin blisters (often at birth), skin fragility, milia (white bumps), nail dystrophy, and in severe cases, fusion of fingers/toes and internal blistering (mouth, throat, esophagus).
Major Types:
EB Simplex (EBS): Most common (approx. 92% of cases), typically milder, causes blistering on hands/feet.
Dystrophic EB (DEB): Approx. 5% of cases; scarring can cause skin to fuse.
Junctional EB (JEB): Approx. 1% of cases; more severe, affects mucous membranes.
Complications: Chronic wounds, severe pain, infections (sepsis), malnutrition from oral blisters, esophageal strictures, and high risk of skin cancer in specific types.
Diagnosis and Management: Diagnosed via skin biopsy (immunofluorescence), electron microscopy, or genetic testing. There is no cure; treatment focuses on daily management: protective dressings, avoiding friction, pain management, and nutritional support.
Cleveland Clinic
Cleveland Clinic
 +8
Epidemiology
EB occurs in roughly 20 per million live births, with about 9 per million people in the general population living with the condition. It affects all genders and ethnicities equally.

Epidermolysis bullosa (EB): symptoms, treatment, and care
What is EB?
EB is short for epidermolysis bullosa.

Inherited EB is a group of rare and incredibly painful genetic skin conditions that cause the skin to blister and tear at the slightest touch. With skin as fragile as a butterfly’s wings, EB is often referred to as ‘butterfly skin’.

It is thought to affect at least 5,000 people in the UK and 500,000 worldwide. These figures could be much higher though as it often goes undiagnosed. There are currently no cures for EB.
It’s a genetic condition; you are born with it although it may not become evident until later in life.
The type of EB you have does not change later in life and EB is not contagious or infectious.
Acquired EB is known as EB acquisita and is a rare, severe type of EB that is caused by autoimmune disease.



Contents:

What causes EB?
Are there different types of EB?
How is EB diagnosed?
How does EB affect the body?
Is there specialist EB healthcare?
How is EB treated?
Epidermolysis bullosa acquisita (EBA)
What should I do if I think I have EB?
Become a DEBRA UK member
What causes EB?
Every person has two copies of each gene, one passed on from each parent. A gene is section of DNA which controls part of a cell’s chemistry – particularly protein production. Each gene is made up of DNA, which contains the instructions to make essential proteins, including those which help bind the layers of skin together.

With people who have inherited EB, a faulty or mutated gene passed down through the family means the affected areas of the body are missing the essential proteins responsible for binding the skin together, which means the skin can break apart easily with friction.

A child, young person, or adult with EB might have inherited the faulty gene from a parent who also has EB, or they might have inherited the faulty gene from both parents who are just “carriers” but don’t have EB themselves. The change to the gene can also happen by chance when neither parent are carriers, but the gene mutates spontaneously in either the sperm or the egg before conception.

Also rarely, a severe form of EB can be acquired as the result of an autoimmune disease, where the body develops antibodies to attack its own tissue proteins.

EB may be inherited as either dominant, where only one copy of the gene is faulty, or recessive, where both copies of the gene are faulty. Parents have a 50% chance of passing on a dominant form of EB to their child, whereas the chance of passing on a recessive form of EB drops to 25%. Both parents may carry the gene without knowing and displaying any symptoms.

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

Are there different types of EB?
There are thought to be over 30 subtypes of inherited EB, grouped into the four main types listed below. Each type of EB is identified according to which layer of skin is affected by the faulty gene and missing protein.

Find out more about the different types of EB below.

EB simplex (EBS)
Dystrophic EB (DEB)
Junctional EB (JEB)
Kindler EB (KEB)
How is EB diagnosed?
EB will usually be diagnosed in babies and young children when the symptoms can be obvious from birth.

However, some types of EB, such as EBS, may not be diagnosed until adulthood, and in some cases may not be diagnosed at all, as healthcare professionals do not always recognise the symptoms or can often misdiagnose it as another inflammatory skin condition such as psoriasis or atopic dermatitis (severe eczema).

If it is suspected your child has EB, they will be referred to a skin specialist (dermatologist) who can carry out tests (with your consent) to determine the type of EB and the support plan needed to help manage the symptoms. They may take a small sample of skin (biopsy) to send for testing or diagnose through a blood test.

How does EB affect the body?
Symptoms will vary depending on the type and severity of EB but the main challenge people with EB face daily is the pain and itching that occurs because of the blistering. In certain types of EB including EBS, blisters can be localised to the hands and feet or generalised across the body, however in severe types of EB it can affect any part of the body including mucosal linings, which are the moist, inner lining of some organs and body cavities such as the nose, mouth, lungs, and stomach. Blistering can also occur on the eyes and on internal organs including the throat and oesophagus.

Find out more about how EB affects the body below.

Common EB symptoms
Pain & itch
Causes of pain
Causes of itch
Is EB a hidden disability?

How is EB treated?
There are no cures for EB, but there are treatments available that aim to improve quality of life by managing the symptoms as best as possible.

In this section you will find further information and advice about treatments and managing the symptoms of EB.

Skin and wound care
For most people living with EB, or caring for someone with EB, wound care is a big part of daily life. Knowing how to manage blisters and different wound types, treat pain and itch, prevent, and treat infection and when to seek medical advice are all crucial in EB wound care.

There is a range of support to help individuals and families deal with the challenges of living with EB including the EB healthcare centres of excellence where patients living in any of the four nations may be referred for regular healthcare and support. The EB healthcare specialists in these centres, some of which are part-funded by DEBRA UK, are highly knowledgeable and experienced in how to care for skin, including how to lance blisters and what treatments are available to relieve symptoms. You can ask to be referred to one of the centres through your GP. If your GP is uncertain about referring you or you are unsure about what to request, please contact our EB Community Support Team who will be able to help you and can provide a letter template to share with your GP.

Below you can find information to help you in care for blisters and minimise skin damage, along with links to other useful resources.

General skincare advice
An important part of any treatment plan for people living with EB is preventing trauma or friction to the skin to reduce the frequency of blistering and therefore reduce pain, itch, and scarring. Everyone’s experience with EB is slightly different and advice will vary depending on the severity and type of EB. It is therefore recommended that you seek support from an EB healthcare specialist for your individual circumstances but as a guide it is recommended to:

minimise walking long distances and try to save your skin/feet for essential journeys where possible.
try and avoid bumps and scratches and try to avoid rubbing the skin – parents may need to adapt how they lift babies and children.
try to find comfortable clothes that don’t rub against the skin and where you can, avoid bulky seams, where possible, wear natural smooth fibres such as silk, bamboo and cotton as this can help reduce irritation.
keep the skin as cool as possible.
choose comfortable footwear that doesn’t have hard seams inside. Find out more in the footwear guide.
use any aids and adaptations suggested by your healthcare team which could be simple solutions such as insoles or a perching stool, or mobility aids such as a wheelchair or grab rails in the bathroom. Always ask your EB specialist as some equipment or mobility aids may not be appropriate for your EB.
ask others to be considerate of your needs.
People living with EB often describe the pain from their skin damage as being like third degree burns, and in some cases, there may be deep loss of skin over large areas. Specific care is required to limit pain, itch and other symptoms associated with blistering. If you’re not sure how to care for your skin, or that of someone in your care, always refer to a specialist. You can find contact details for the specialist centres as well as what to do in an emergency here.

The DEBRA EB Community Support Team can also provide practical advice including knowing your rights and the obligations of education providers and employers to ensure that pain relief can be administered at the correct times. Talking to those around you about EB may also help you to cope with the physical and mental health challenges of living with EB.

Equipment & supplies
To be able to manage the symptoms of EB you will require certain products and supplies. What you need will depend on the type and severity of your EB, and your EB healthcare specialist will be able to advise you but below is an indication of the equipment and supplies you are likely to need:

Scissors. Sharp scissors will be needed to cut and trim bandages, regular scissors also work for cutting dressings. Make sure you clean and sanitise scissors after each use.
Wound dressings. There are a wide range of dressings available for different types of EB and your EB healthcare specialist will be able to advise you about the most suitable dressings for you or the person you care for. In all cases it is important to use non-adhesive dressings that do not stick to the skin to minimise further damage.
Bandages. Bandages may be needed to ensure that the dressings stay in place because if dressings slip, they can tear the fragile skin or cause the wounds to stick to clothing or bedding. A retention bandage can help ensure that dressings stay in place.
Moisturisers. Itching can be a major problem in all forms of EB. As wounds heal, or as infections flare up, itching can become troublesome but keeping the skin well moisturised can really help.
Antimicrobial cleansers. There is a risk of infection with all types of EB due to often large areas of open wounds and thus antimicrobial cleansers, moisturisers and topical treatments are often necessary to reduce this risk. A topical treatment is a medication applied to a particular place on the body with the goal being that it treats the tissues to which it has been applied without significant effects at other sites.
There are specialist suppliers who can deliver items such as these directly to your home, and many pharmacies who offer a prescription delivery service so check with your local pharmacy. One of these providers is Bullen Healthcare who have extensive experience supporting the EB Community. They consistently hold a large stock of products and supplies commonly prescribed to people living with EB and have even created a dedicated team to help with all EB queries and orders. To find out more about accessing medical supplies and getting the appropriate prescription medication, please contact the DEBRA EB Community Support Team.

Caring for blisters

Five things you should know about our epidermolysis bullosa (EB) care

Epidermolysis bullosa (EB) is a rare genetic disorder that causes severe skin blistering, bleeding and sores.

Often called “the worst disease you’ve never heard of,” EB is caused by a mutation in a person’s genetic code. There are many types of EB, but all of them affect the skin and other connective tissue within the body. For a child with EB, even minor friction, contact or trauma can cause the skin’s layers to separate and blister, and eventually scar over. Certain forms of the disease can also affect the lining of the mouth or esophagus, the membranes over the eyes or the digestive tract.