Epidermolysis bullosa (EB)
There's currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms.
Treatment also aims to:
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:
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:
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:
Your MDT will be able to advise about caring for your child's skin. For example:
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:
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:
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.
This usually requires treatment with eye drops and ointments to keep the eyes moist.
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:
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.
The different types of surgery are described below:
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:
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.
Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited skin disorders that cause the skin to become very fragile.
The symptoms of epidermolysis bullosa (EB) can vary in severity, ranging from mild to life-threatening.
Epidermolysis bullosa (EB) is caused by an inherited genetic mutation that makes the skin more fragile.
Epidermolysis bullosa (EB) is usually diagnosed in babies and children.
There is currently no cure for epidermolysis bullosa (EB), but treatment can help to ease and control the symptoms.
Kayla Grant is six and has epidermolysis bullosa (EB). Her skin is so fragile that she cannot be hugged. Her friends and family call her the butterfly girl.