Epidermolysis bullosa (EB)
Symptoms of epidermolysis bullosa
Symptoms of epidermolysis bullosa (EB) can vary in severity, ranging from mild to life-threatening.
Although specific symptoms depend on the type of EB, there are some common features, including:
- skin that blisters easily
- blisters inside the mouth
- blisters on the hands and soles of the feet
- scarred skin, sometimes with small white spots called milia
- thickened skin and nails
Types of EBS
Read information about symptoms of:
- EBS (localised)
- EBS (generalised intermediate)
- EBS (generalised severe)
- Junctional EB (localised)
- Junctional EB (generalised)
- Dystrophic EB (dominant)
- Dystrophic EB (recessive, severe generalised)
Symptoms of epidermolysis bullosa simplex (EBS)
The symptoms of the most common variants of epidermolysis bullosa simplex (EBS) are described below.
Localised EBS is the most common form of EBS. It’s characterised by painful blisters on the palms of the hands and soles of the feet that develop after mild or moderate physical activity, such as walking, gardening or playing sport.
Although the blisters often form on the hands and feet, it’s not uncommon for them to develop on other parts of the body as well, such as the buttocks or inner thighs, after they’ve been subjected to friction during activities such as riding a bike.
Excessive sweating can make the blisters worse, so localised EBS is often more noticeable during the summer. The blisters usually heal without scarring.
Symptoms usually become apparent during early childhood, although mild cases may go undiagnosed until early adolescence.
Some adults with localised EBS may experience thickening of the skin on their palms and the soles of their feet, as well as their fingernails and toenails.
EBS (generalised intermediate)
In this form of EBS, blisters can form anywhere on the body in response to friction or trauma. The symptoms are also usually more troublesome during hot weather.
There may be mild blistering of the mucus membranes, such as the inside of the nose, mouth and throat.
Scarring and milia (small white spots) may occur on the skin, but this is uncommon.
The symptoms usually begin during birth or infancy. As with localised EBS, adults may experience thickening of the skin on their palms and the soles of their feet, as well as their fingernails and toenails.
EBS (generalised severe)
This form of EBS is the most severe type, where children experience widespread blistering. In the most severe cases, a child can develop up to 200 blisters in a single day.
The widespread blistering can make the skin vulnerable to infection and affect an infant’s normal feeding pattern, which means they may not develop at the expected rate.
Painful blisters on the soles of the feet can affect an infant’s ability to walk and may mean they start to walk later.
Blisters can also develop inside the mouth and throat, making eating – and sometimes speaking – difficult and painful. Thickening or loss of the fingernails and toenails is another common symptom.
The symptoms usually develop at birth, but the blistering gradually improves through childhood and adolescence – so adults may only experience occasional blistering.
However, it’s common for the skin of the palms and soles to become progressively thicker with age, and this may make walking or activities using the hands difficult or painful.
Symptoms of junctional epidermolysis bullosa (JEB)
There are two main variants of junctional epidermolysis bullosa (JEB), discussed below.
JEB localised (non-Herlitz)
Non-Herlitz JEB causes widespread blistering of the skin and mucus membranes. Blistering of the scalp is common and may lead to scarring and permanent hair loss.
Other common symptoms include:
- long-term injuries to the skin and underlying tissue, especially of the lower legs
- scarring of the skin
- deformity or loss of fingernails and toenails
- pigmented (coloured) areas of skin that look like large, irregular moles
Tooth enamel isn’t properly formed, which means teeth may be discoloured, fragile and prone to tooth decay. The mouth is also frequently affected by blisters and ulcers, which may make eating difficult.
Some patients also develop problems with the urinary tract, such as blistering or scarring of the urethra (tube urine passes through from the bladder).
The symptoms usually develop at birth or shortly afterwards and can improve with age.
As adults, people with this form of EB have an increased risk of developing skin cancer, so regular review by a dermatologist (skin specialist) familiar with EB is recommended.
JEB generalised (Herlitz)
This is the most severe type of JEB, although it’s incredibly rare.
Herlitz JEB causes widespread blistering of both the skin and the mucus membranes. In particular, the following areas of the body are affected by blistering and chronic ulcers:
- the genitals and buttocks
- around the nose and mouth
- the fingertips
- the toes
- the neck
- inside the mouth and throat
- the eyes
Complications of Herlitz JEB are common and include:
- tooth enamel defects and decay
- malnutrition and delayed growth
- breathing difficulties
Because of these complications, the outlook for children with Herlitz JEB is very poor. Around 40% of children with the condition won’t survive the first year of life, and most won’t survive more than five years.
Sepsis and respiratory failure (due to blistering and narrowing of the airways) are the most common causes of death.
Symptoms of dystrophic epidermolysis bullosa (DEB)
The three most common variants of dystrophic epidermolysis bullosa (DEB) are discussed below.
Dystrophic EB (dominant)
Dominant DEB causes blistering at places on the body that experience trauma, often the hands, feet, arms and legs, which usually results in scarring. Milia (tiny white spots) often form at the site of the blisters.
The nails will usually become thickened and abnormally shaped, or even lost altogether. The mouth is often affected, which can make eating or cleaning teeth painful.
Some people with dominant DEB have mild symptoms with very few blisters, and the only sign of the disease may be misshapen or missing nails.
The symptoms of dominant DEB usually develop at birth or shortly afterwards, but may not occur until later in childhood.
Dystrophic EB (recessive, severe generalised)
Severe generalised recessive DEB is the most severe type of DEB. It causes severe and widespread skin blistering that often leaves areas covered with persistent ulcers.
Repeated scarring to hands and feet can result in the loss of nails. Spaces between fingers and toes can fill with scar tissue so hands and feet take on a mitten-like appearance.
Extensive blistering can also occur on the mucus membranes, particularly inside the:
- oesophagus (tube connecting the mouth and stomach)
Tooth decay and repeated scarring in and around the mouth are both common. This can often cause problems with speaking, chewing and swallowing. Repeated blisters on the scalp may also reduce hair growth.
As a result, many children with this form of DEB will experience anaemia, malnutrition and delayed or reduced growth. The eyes can also be affected by blistering and scarring, which is painful and can lead to vision problems.
The symptoms of severe generalised recessive DEB are usually present at birth. There may be areas of missing skin at birth, or blistering developing very shortly afterwards.
People with this type of DEB have a high risk of developing skin cancer at the site of repeated scarring. It is estimated that more than half of people with severe generalised recessive DEB will develop skin cancer by the time they are 35.
Therefore, awareness of this problem and frequent check-ups (possibly twice a year) with a dermatologist are recommended.
Causes of epidermolysis bullosa
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.
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.
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 is used to confirm EB and determine which variant your child has.
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 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.
Read more about genetics.
Charities and support groups
If your child is diagnosed with EB it can be a frightening and overwhelming experience. 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.
Treating epidermolysis bullosa
There’s currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms.
Treatment also aims to:
- avoid skin damage
- improve quality of life
- reduce the risk of developing complications, such as infection and malnutrition
Due to the rarity of EB, parents and children are usually referred to a specialist centre that employs staff with expertise and experience in treating the condition. In England, there are four specialist centres:
- Birmingham Children’s Hospital
- Solihull Hospital
- Great Ormond Street Children’s Hospital, London
- St Thomas’ Hospital, London
After the initial diagnosis, it’s likely you and your child will have regular follow up appointments at a specialist centre so a detailed treatment plan can be drawn up.
Once your child’s symptoms improve or stabilise, it may be possible to arrange for treatment to be provided locally, so you’ll only need to visit the specialist centre occasionally.
However, with more serious types of EB, such as Herlitz JEB or severe generalised recessive DEB, this arrangement may not always be possible.
Children with EB often have complex needs, particularly if they have a severe form of the condition. They’ll need to be treated by a diverse team of medical specialists working together.
These types of teams are called multidisciplinary teams (MDTs) and can include:
- a dermatologist, a doctor who specialises in treating skin conditions
- a dentist
- a dietitian
- a physiotherapist
- a play specialist, who uses playful activities to help improve a child’s physical and psychological wellbeing
- a specialist nurse, who usually acts as the contact between you and other members of the MDT
An important part of your child’s treatment plan will be practical advice about how to prevent trauma or friction to your child’s skin to help reduce the frequency of blistering. This advice will vary depending on the type of EB and the severity of your child’s symptoms.
This advice may include:
- Not walking long distances, because this can cause blisters to form on the soles of your child’s feet.
- Avoid everyday knocks, bumps and scratches. This may mean having a carer when out in the playground and minimising contact sports. However, it’s important your child doesn’t avoid physical activities or contact with other children. Your physiotherapist should be able to recommend activities unlikely to result in blistering, such as swimming.
- Avoid rubbing your child’s skin. You may have to change the way you lift your child.
- Keep your child as cool as possible in warm weather.
- Avoid clothes that fit tightly or rub against the skin to avoid blistering. Wearing clothes made from natural fabrics, such as cotton, will also help your child keep cool.
- Choose comfortable shoes that fit well and don’t have lumpy seams inside.
Your MDT will be able to advise about caring for your child’s skin. For example:
- when and how to puncture new blisters (see below)
- how to care for wounds left by blisters and prevent infection
- whether to leave wounds uncovered or use dressings
- what types of dressing to use, how to apply and remove them, and how often to change them
- whether to use moisturising creams on your child’s skin
It’s usually recommended that new blisters are punctured (lanced) using a sterile needle. Your GP will be able to provide you with a supply of sterile needles. Lancing the blisters will prevent them getting bigger. Large blisters can leave large, painful wounds which take longer to heal.
It’s usually recommended to leave the skin on top of the blister to protect the lower layers of skin.
If an open wound needs dressing, it’s best to use one that doesn’t stick to the skin and is easy to remove. To hold a non-stick dressing in place, you may be advised to use a sock, cotton bandage or tubular bandage. Regular sticking plasters should be avoided.
Open wounds or raw patches of skin can often become infected and need to be treated. Signs that an area of skin has become infected include:
- redness and heat around an area of skin
- the area of skin leaks pus or a watery discharge
- crusting on the surface of the wound
- a wound does not heal
- a red streak or line is spreading away from a blister or collection of blisters
- a high temperature (fever) of 38C (100.4F) or above
If you think your child has a skin infection, inform your GP as soon as possible. Left untreated, a skin infection can often quickly spread to other parts of the body, particularly with the more severe variants of EB.
Treatment for skin infections include:
- antiseptic creams or ointments
- antibiotic creams or lotions
- antibiotic tablets
- specially designed dressings to help stimulate the healing process
The need for pain relief will vary depending on the severity of your child’s symptoms. The blisters and wounds they leave can be painful and may make simple activities such as moving and walking difficult.
Milder variants of EB such as EBS may only require painkillers available over the counter, such as paracetamol or ibuprofen. In more severe types of EB, stronger painkillers such as morphine may be needed, either for background pain or for procedures like dressings, changes, or bathing.
Children under the age of 16 should never be given aspirin as there’s a small risk it could trigger a serious condition called Reye’s syndrome.
Some types of EB that cause long-term (chronic) pain may require different medicines, such as amitriptyline or gabapentin. These were originally designed to treat depression and epilepsy but they later proved effective in treating chronic pain.
Soreness caused by blisters inside your child’s mouth can make cleaning their teeth difficult. Good dental hygiene with a soft toothbrush and fluoride-containing mouthwash, as well as regular visits to a dentist, is important.
Read more about dental care for babies and children.
Your child’s fingernails and toenails may become thicker than normal and difficult to cut, especially if blisters form under the nail.
Your hospital team should be able to recommend creams which soften nails and make them easier to cut.
Children with Herlitz JEB and recessive DEB often experience blistering and irritation in and around their eyes. This usually requires treatment with eye drops and ointments to keep the eyes moist.
Feeding and nutrition
If your baby has blisters in their mouth, it can cause problems with feeding. Your MDT should be able to give you advice about how to overcome feeding problems. For example:
- feeding a baby or infant using a syringe, eyedropper or ‘artificial nipple’
- adding liquid to mashed food to make it easier to swallow (once your child is old enough to eat solids)
- including lots of soft food in your child’s diet
- not serving food too hot, as it could cause further blistering
If your child is older, your MDT will also be able to give you advice about their diet. The healing process makes great demands on the body and a healthy diet is important to help heal your child’s skin wounds and avoid malnutrition.
Your child may also need supplements in the form of milk-based drinks or puddings that have high levels of protein and/or calories. Supplements of vitamins, iron or zinc may also be required if they’re found to be deficient in these on blood tests. Your dietitian will be able to advise about this.
Constipation can be a common problem for children with EB, particularly if they find it difficult to digest high-fibre foods, such as wholemeal bread or muesli. If your child regularly experiences constipation, they may benefit from having a fibre supplement.
Read more about treating constipation.
Surgery may be required to treat some complications that can arise in cases of EB.
The different types of surgery are described below:
- If your child’s fingers and toes have become fused together by scar tissue, creating a ‘mitten’ effect, surgery may be required to separate them.
- If your child’s oesophagus (the tube in the throat that food passes through) has become narrowed by scarring, surgery may be required to widen it. This is done by placing a balloon inside the oesophagus and inflating it to widen the narrowed area.
- If poor weight gain and reduced growth have occurred because symptoms of EB make eating impossible, surgery can be used to implant a feeding tube into the body through an incision (cut) in the surface of the stomach or abdomen (tummy).
A great deal of research is being carried out to try to find a cure, or at least more effective treatments, for EB.
Areas of research include:
- applying proteins directly to the skin to prevent the layers of skin becoming unstuck
- adding ‘corrected’ copies of certain genes to badly affected areas of skin to try to regulate the production of skin cells
- adding a type of cell known as fibroblasts – grown from a small sample of your child’s skin – to the skin to help strengthen it
- using bone marrow transplants to stimulate production of healthy skin cells
- identifying medication that can improve and accelerate the process of wound healing
Initial results in all of these areas have been promising, but it may take several years until researchers come up with safe and effective treatments.
See the clinical trials page to search for relevant trials through the UK and worldwide.
‘We’re determined to give her the best life possible’
Kayla Grant is a child with epidermolysis bullosa (EB). Her skin is so fragile she cannot be hugged. Her friends and family call her the butterfly girl, because her skin is as fragile as a butterfly wing. Her mother Brenda talks about their lives.
“My husband Paul and I had no idea that we both carry the gene that causes EB. When Kayla was born, she seemed healthy except for a few tiny blisters on her thumb and heel.
“When doctors checked her heart, I was horrified as they pulled the monitor pads off her body because skin came away. She was in and out of hospital for three months to try to find what was wrong. Eventually we went to Great Ormond Street, where our baby was diagnosed with EB.
“We were told Kayla’s skin cells were damaged and there was no cure. Just cuddling or holding her caused her skin to blister. It got worse as she began trying to walk. Sometimes she would scream in agony. She never crawled because it would hurt her so much.
“Blisters form everywhere: under her hair, in her ears and her mouth. I became frightened to pick her up and dreaded having to get her dressed. In the beginning I think she resented me because I hurt her and I felt very guilty, but now she knows I am trying to help.
“Buying clothes is a nightmare because the fabric and seams rub against her skin. I have to modify almost everything she wears by cutting away tight cuffs and collars and she has a vest made from a soft bandage-like fabric. She has shoes because she wants to be like other little girls, but has to wear slippers most of the time.
“She sleeps in silk or Egyptian cotton sheets, which cause less friction. But every day I still have to lance the blisters that have formed overnight and cut away dead skin from the wounds that are healing, so that they don’t become infected. Kayla takes morphine or a milder painkiller.
“We want her to have a normal life and experience the same things as other children as much as possible. I bind her hands and feet with bandages to save them from knocks and we allow her to run around and play on a slide, even though it can end up causing her pain.
“She loves swimming and we have a paddling pool in the garden, but she will never be able to play sports like tennis.
“It would be so easy to try to shield her but that would harm her. We want her to be in control of her own life and learn what she is capable of doing.
“She has a full-time carer and attends normal lessons, but even holding a pencil is sometimes too painful for her. Eating is a problem because blisters develop inside her mouth. She can’t have anything like crisps. She’ll normally have soup, yogurt and soft fruits such as bananas.
“I don’t think I’ll ever come to terms with seeing her in so much pain. We can’t have a normal life and holidays are difficult. We took Kayla to Mauritius once but she had to fly home because the hot climate made her condition worse.
“Sometimes she gets very frustrated. The other night she had blisters on her ear and couldn’t sleep. Despite all this, she has a wonderful sense of humour.
“Her older sister, Alana, who is eight and fortunately doesn’t have EB, is great with Kayla. She sits reading with her for hours.
“We know that there will be health risks as Kayla gets older but we’re determined to give her the best life possible.”