Epidermolysis bullosa (EB) is a group of rare inherited skin conditions that cause your skin to become very fragile. This means you can get painful blisters when your skin is rubbed or damaged.
Symptoms of epidermolysis bullosa
Common symptoms in all types of EB include:
- skin that blisters easily
- blisters on the hands and soles of your feet
- thickened skin that changes colour over time, or is scarred
- thickening of the skin and nails
Types of epidermolysis bullosa
The 4 main types of EB are:
- EB simplex (EBS)
- dystrophic EB (DEB)
- junctional EB (JEB)
- Kindler EB (KEB)
There are also many subtypes of these 4 main types of EB. Each has slightly different symptoms.
Symptoms of different types of EB
Diagnosing EB
EB is usually diagnosed in babies and young children. But some milder types of EB may not be diagnosed until adulthood.
If a GP thinks your child has the condition, they'll refer them to a skin specialist (dermatologist).
The specialist will do tests to check the type of EB and make a treatment plan. They will take blood for genetic testing and may also take a small sample of skin (biopsy) to test.
Diagnostic tests in pregnancy
In some cases it's possible to test an unborn baby for EB after the 11th week of pregnancy.
Tests include:
A test may be offered if:
- you or your partner know you have the gene change (variant) that causes EB
- there's a risk you will have a child with a severe type of EB
If the test confirms your child will have EB, you'll be offered counselling and advice.
Causes of EB
EB is caused by a gene change that makes skin more fragile.
A child with EB might have inherited the gene change from:
- a parent who has EB
- both parents - if they have the gene but do not have EB themselves
The change to the gene can also happen by chance. It is not always passed on from a parent.
Treatment for EB
There is no cure for EB.
Treatment aims to relieve symptoms and stop complications from developing.
A care team will help you decide what treatment is best for your child. You can also ask them for advice about living with the condition.
Treating epidermolysis bullosa
Getting support
If your child is diagnosed with EB, you may feel scared, sad, annoyed or worried.
You'll probably want to find out as much as possible about the condition and available treatments.
Helpful supports include:
Support for carers
Caring for a child with a complex and demanding condition such as EB can be difficult. But there is support available for carers.
Find out more about: