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.