Diagnosing epidermolysis bullosa

Epidermolysis bullosa (EB) is usually diagnosed in babies and children.

However, symptoms of some types of EB can be mild and develop later, so may not be diagnosed until adulthood.

Prenatal testing

In some cases, EB may be diagnosed in an unborn child.

If you or your partner is known to be a carrier of a mutated gene associated with EB, and there's a risk of your child developing a severe form of the condition, it's possible to test an unborn baby at about 11 weeks into pregnancy. 

If the test confirms your child will have EB, you'll be offered counselling and advice to help you make an informed decision about how you wish to proceed with the pregnancy.

Prenatal tests include  Amniocentesis and chorionic villus sampling .

Initial diagnosis

In most cases, EB is detected at birth by the neonatal team, who then refer your child to a specialist EB team.

For older children, your GP will ask about your child's skin. For example, what causes the blisters and how easily their skin is damaged.

You'll also be asked whether you have a family history of EB.

Your child's blisters will be examined, along with their nails, teeth and hair. Your GP may also check for blisters on other areas of your child's body, such as in their mouth and eyes.

If your GP suspects EB is likely, your child will be referred to a specialist EB team for further assessment and testing.

Further testing

Further testing is used to confirm EB and determine which variant your child has.

Biopsy

A biopsy involves taking a small sample of skin and examining it under powerful microscopes. Looking at exactly where blisters have developed in the various layers of skin can determine the type of EB your child has.

Genetic testing

Genetic testing involves taking a sample of your child's blood and sending it to a specialist genetic laboratory.

A sample of DNA can be extracted from the blood and checked for mutations associated with EB.

A sample of both your blood and your partner's may also be taken to help determine whether you are a carrier of one of the various EB mutations.

A natural response is to find out as much as possible about the condition and available treatments.

DEBRA  is a national charity that provides help, advice and support for people in the UK living with EB.

DEBRA International is a worldwide network of national groups working on behalf of people affected by EB.

Support for carers

It's also important not to neglect your own health and wellbeing when caring for a child with a complex and demanding condition, such as EB.

Read about carer wellbeing and  parent caring for more information and advice.


Content supplied by the NHS Website

Medically Reviewed by a doctor on 24 Nov 2016