Epidermolysis bullosa (EB) is a rare painful genetic skin blistering condition. People with EB have a faulty gene, which means the skin cannot bind together, so any trauma or friction can cause painful blisters resulting in open wounds and scarring. EB can also affect internal linings and organs.

There are four main types of EB, some of which can be obvious from birth, or in milder cases can be diagnosed in early childhood or later in life.

If there is no history of EB in the family, often the first sign is when a baby is born with skin missing on one or more parts of the body. EB can be diagnosed or flagged as a possibility by the neonatal team, but further laboratory testing is required to confirm the diagnosis and EB type. This can be distressing for parents at an already overwhelming time. We can support families by providing information about EB, helping with referrals to specialists, accessing medical supplies, equipment and other practical, emotional or financial support.

If you or your family member have had an EB diagnosis and need support, or if EB is suspected but not yet diagnosed, please get in touch with our Community Support Team.

We're also working hard to create a wider awareness and understanding of EB, which, combined with advances in testing, is paving the way for easier diagnosis.

The information below is a brief introduction to the diagnostic tools available. Your healthcare team will be able to advise which test(s) may be required for your individual circumstances.  

Contents:

• How does testing work?
• Prenatal testing
• Skin sampling
• Genetic testing
• Support following diagnosis
• Resources

  

How does testing work?

There are two main methods of laboratory diagnosis: skin sampling and genetic testing (click the diagram on the right). Where EB is suspected in newborns, a skin sample analysis is the first step in diagnosing EB. However genetic testing should also always be performed, and for those parents-to-be who already know that they carry the gene, prenatal testing and counselling is possible.

Some milder types of EB may not be diagnosed until later, for example symptoms may only appear once a baby starts crawling or walking or when they first fall. Even if you or your child are coping with the symptoms initially, it’s vital that you seek diagnosis as there is lots of support which may only be available once a diagnosis is confirmed. It also helps specialist EB services provide the best care for you, which also benefits the whole EB community and can facilitate the advancement of EB treatments.

If it is suspected that you or your family member have EB you can ask to be referred to one of the specialist centres via your GP. However, laboratory diagnosis is essential to determine the type of EB and the precise cause at the genetic (DNA) and protein levels.

If you are struggling to get a referral, our Community Support Team can work with you to get the referrals you need.

If you have had a diagnosis, and subsequently had a child who you suspect also has EB, it is worth getting a diagnosis for your child also. Your child will then have access to specialist care as it is common for EB to affect people differently.

The 'Laboratory Diagnosis' information booklet provides a comprehensive guide to testing and diagnosis for people living with EB.

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Prenatal testing

In some cases, it's possible to test an unborn baby for EB using amniocentesis and chorionic villus sampling at about 11 weeks into your pregnancy. This may be offered if you or your partner are known to be a carrier of the faulty gene associated with some types of EB. The decision to test may be subject to availability and criteria and may not be possible for all types of EB. You will be able to discuss suggested tests for your situation along with the risks and benefits of these options with your healthcare team before deciding which is the right approach for you.

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

Thanks to advances in EB research and funding from DEBRA, we were able to test our baby for EB before she was born. Knowing we would not have to see our newborn go through the same pain and distress [our son] Dylan did was a massive relief. 

Simon & Karen Talbot who had a healthy baby girl after losing their son, Dylan at 3 months and 1 day old due to complications from junctional EB.

If you would like to talk to someone about the risks of your child having EB when planning a future pregnancy, no matter how mild or severe your EB is, the specialist teams at the EB centres of excellence can advise. If you are not registered with an EB centre, you can ask your GP to be referred, or we can help you get a referral.

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Skin sampling

This method is used to analyse the changes in skin components and protein expression, which is the process by which cells synthesize, modify and regulate proteins and is either faulty or missing in people with EB. A small sample of good skin (not blistered), also known as a biopsy, is taken using local anaesthetic and sent to a specialist diagnostic laboratory for analysis. This identifies the layer of skin and protein affected, and therefore the type of EB.

You can find out more about the different types of EB here.

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Genetic testing

Genetic testing involves taking small samples of blood from the patient and their parents for analysis in a specialist laboratory. DNA within the blood contains all the unique genetic code for each individual and holds the instructions for making all the proteins in the body. The DNA is extracted from the blood and analysed for defective genes. There are specific defects which relate to different health conditions and this is how a diagnosis of EB is confirmed.

As a clinician working in EB, sometimes I feel as if I am looking after children with different conditions as each type can vary so much in their presentation. Obtaining an accurate diagnosis from birth enables the EB multidisciplinary team to work with families to plan for the future and make relevant decisions about their care package. Determining the inheritance of the condition is also paramount for these families who are planning future pregnancies, so that we can support them with prenatal testing processes

Katie Plevey, Senior EB Clinical Nurse Specialist in association with DEBRA UK at GOSH.

A combination of a diagnosis and discussing your individual circumstances with your EB specialist healthcare team will provide the best treatment outcomes.

 

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Support following diagnosis

Once the diagnosis has been made, genetic counselling should be made available for the person and their family. Our Community Support Team are not able to give medical advice but are very experienced and knowledgeable and can provide practical, emotional and financial support. Find out how to contact your EB Support Manager here.

We understand some of the challenges you may be facing and have helped a number of families of babies born with EB. One of those families is Danielle and baby Ray (pictured with her sisters). Read more about their journey so far.

I am incredibly grateful for Amelia’s support [EB Community Support Manager]; she makes sure I never feel alone and when things were scary and unknown, she gave me the strength I needed. 

Danielle, mum to Ray, born with EB in July 2020.

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Resources

Laboratory Diagnosis booklet - a comprehensive guide to testing & diagnosis for EB on DEBRA International website

NHS website - general information on EB & diagnosis

Great Ormond Street Hospital for Children - Information on different types of EB, diagnosis and treatments

DEBRA Community Support Team - practical, emotional and financial support

Simon & Karen Talbot's story - received support from DEBRA for prenatal testing after losing their first child to EB

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