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 4 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 that 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.
But 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.
This team can include:
- a doctor who specialises in treating skin conditions (a dermatologist)
- 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 team
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 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 (this can cause blisters to form on the soles of your child's feet)
- avoiding everyday knocks, bumps and scratches
- avoiding rubbing your child's skin (you may have to change the way you lift your child)
- keeping your child as cool as possible in warm weather
- avoiding clothes that fit tightly or rub against the skin to try to prevent blistering
- wearing clothes made from natural fabrics, like cotton (this will also help keep your child cool)
- choosing comfortable shoes that fit well and don't have lumpy seams inside
Your child may have to have a carer when they're out in the playground and avoid playing contact sports.
But it's important that they don't avoid physical activities or contact with other children altogether.
Your physiotherapist should be able to recommend activities unlikely to result in blistering, such as swimming.
Your treatment team will be able to advise about caring for your child's skin.
- when and how to puncture new blisters
- 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 that 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 a 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 the area
- the area leaking pus or a watery discharge
- crusting on the surface of the wound
- a wound not healing
- a red streak or line spreading away from a blister, or a collection of blisters
- a high temperature (fever) of 38C (100.4F) or above
If you think your child has a skin infection, let your GP know as soon as possible.
Left untreated, a skin infection can often quickly spread to other parts of the body, particularly with the more severe forms 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 blisters and wounds can be painful and may make simple activities such as moving and walking difficult.
Over-the-counter painkillers, such as paracetamol, might be enough for milder forms of EB, such as EBS.
For 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.
You may need stronger medicines, such as amitriptyline or gabapentin, for types of EB that cause long-term pain.
Soreness caused by blisters inside your child's mouth can make cleaning their teeth difficult.
But good dental hygiene, using a soft toothbrush and a mouthwash that contains fluoride (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 that soften nails and make them easier to cut.
Children with generalised severe 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 treatment team can give you advice about how to overcome feeding problems.
- 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 treatment team can also 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 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 constipation.
Surgery may be needed to treat some complications that can arise in severe 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 needed to separate them.
- If your child's oesophagus (the tube that connects the mouth and stomach) has become narrowed by scarring, surgery may be needed to widen it. This is done by placing a balloon inside the oesophagus and inflating it to widen the narrowed area.
- If your child is underweight and not growing properly because symptoms of EB make eating impossible, surgery can be used to implant a feeding tube into their tummy.
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.
The DEBRA website has more information on current EB research and clinical trials.