Epidermolysis bullosa (EB)

Overview

Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters.

Symptoms of epidermolysis bullosa

The main symptoms of all types of EB include:

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 epidermolysis bullosa

The 3 main types of EB are:

epidermolysis bullosa simplex (EBS) - the most common type, which tends to be milder with a low risk of serious complications
dystrophic epidermolysis bullosa (DEB) - which can range from mild to severe
junctional epidermolysis bullosa (JEB) - the rarest and most severe type

The type reflects where on the body the blistering takes place and which layer of skin is affected.

There are also many variants of these 3 main types of EB, each with slightly different symptoms.

Diagnosing EB

EB is usually diagnosed in babies and children by your neonatal team, as the symptoms are often obvious from birth. But some milder types of EB may not be diagnosed until adulthood.

If it's suspected your child has the condition, they'll be referred to a skin specialist (dermatologist).

The specialist will carry out tests to determine the type of EB and help come up with a treatment plan. They may take a small sample of skin (biopsy) to send for testing.

Prenatal testing

In some cases it's possible to test an unborn baby for EB at about 11 weeks to pregnancy.

This may be offered if you or your partner are known to be a carrier of the faulty gene assocaited with EB and there's a risk of having a child with a severe type of EB.

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.

Prenatal tests include amniocentesis and chorionic villus sampling.

Causes of epidermolysis bullosa

EB is caused by a faulty gene (gene mutation) that makes skin more fragile.

Usually, a child with EB will have inherited the faulty gene from a parent who also has EB.

It's also possible for a child with EB to have inherited the faulty gene from both parents who are just "carriers" but don't have EB themselves.

Treatment for epidermolysis bullosa

There's currently no cure for EB, so treatment aims to relieve symptoms and prevent complications developing, such as infection.

A team of medical specialists will help you decide what treatment is best for your child and offer advice about living with the condition.

You can manage EB at home by:

popping blisters with a sterile needle
applying protective dressings
avoiding things that make the condition worse

Medicines can be used to treat infection or to reduce pain. Surgery may be needed if EB causes narrowing of the food pipe or problems with the hands.

Epidermolysis bullosa acquisita

Epidermolysis bullosa acquisita (EBA) is an acquired form of EB with similar symptoms.

Like EB, EBA causes the skin to blister easily. It can also affect the mouth, throat and digestive tract.

But EBA isn't inherited, and symptoms don't usually appear until later life.

It's an autoimmune disease, which means your immune system starts to attack healthy body tissue. It's not known exactly what causes this.

EBA is a very rare condition that tends to affect people over the age of 40.

Charities and support groups

If your child is diagnosed with EB, it can be a frightening and overwhelming experience. You'll probably want 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 important not to neglect your own health and wellbeing when caring for a child with a complex and demanding condition such as EB.

Information about you

If you or your child has EB, your clinical team will pass information about you or your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condtion. You can opt out of this register at any time.

Find out more about the register

Symptoms

The symptoms of epidermolysis bullosa (EB) can vary depending on the type you have. Some types of EB have a low risk of serious complications, but other types can be life threatening.

Epidermolysis bullosa simplex (localised)

Localised EBS is the most common form of EB. It causes 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.

Blisters can also develop on other parts of the body, such as the buttocks or inner thighs, after the skin has rubbed during activities like cycling.

Excessive sweating can make the blisters worse, so localised EBS is often more noticeable during the summer. The blisters usually heal without scarring.

Symptoms are usually noticed in early childhood, although mild cases may go undiagnosed until the early teens.

Some adults with localised EBS may experience thickening of the skin on their palms and the soles of their feet, as well as thickened fingernails and toenails.

Epidermolysis bullosa simplex (generalised intermediate)

In this form of EBS, blisters can form anywhere on the body in response to friction or trauma. The symptoms are usually more troublesome during hot weather.

There may be mild blistering of the mucous 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 thickened fingernails and toenails.

Epidermolysis bullosa simplex (generalised severe)

This form of EBS is the most severe type, where children have 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 grow and 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 spreaking - 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 as the child gets older, so adults may only experience occasional blistering.

But it's common for the skin of the palms and soles to become progressively thicker with age, and this may make walking or using the hands difficult or painful.

Junctional epidermolysis bullosa (generalised intermediate)

Generalised intermediate JEB causes widespread blistering of the skin and mucous membranes.

Blistering of the scalp is common, and may lead to scarring and permanent hair loss.

Other common symptoms include:

slow-healing injuries, 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 their urinary system, such as blistering or scarring of the tube that carries urine out of the bladder (the urethra).

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 skin specialist (dermatologist) familiar with EB is recommended.

Junctional epidermolysis bullosa (generalised severe)

This is one of the most severe types of EB, although it's extremely rare.

Generalised severe JEB causes widespread blistering of both the skin and the mucous membranes.

In particular, the following areas of the body are affected by blistering and persistent 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 generalised severe JEB are common and include:

anaemia
tooth decay
malnutrition and delayed growth
dehydration
breathing difficulties
sepsis

Because of these complications, the outlook for children with generalised severe 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 5 years.

Sepsis and lung failure (caused by blistering and narrowing of the airways) are the most common causes of death.

Dystrophic epidermolysis bullosa (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 epidermolysis bullosa (recessive, severe generalised)

Severe generalised recessive DEB is the most severe type of EB. 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 mucous membranes, particularly inside the:

mouth
oesophagus (tube connecting the mouth and stomach)
anus (bottom)

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 have 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's estimated more than half of people with severe generalised recessive DEB will develop skin cancer by the time they're 35.

Awareness of this problem and frequent check-ups (possibly twice a year) with a dermatologist are recommended.

Treatment

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

Specialist centres

Parents and children are usually referred to a specialist centre that employs staff with expertise and experience in treating the condition.

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, this arrangement may not always be possible.

Treatment team

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

General advice

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 you'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.

Skin care

Your treatment team will be able to advise about caring for your child's skin.

For example:

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.

Infections

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:

heat or redness around the area, but redness can be harder to see on brown and black skin
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

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

Pain relief

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.

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.

Dental care

Soreness caused by blisters inside your child's mouth can make cleaning their teeth difficult.

But good hygiene, using a soft toothbrush and a mouthwash that contains fluoride (as well as regular visits to a dentist), is important.

Nail care

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.

Eye care

Children with severe types of EB can experience blistering and irritation in and around their eyes.

This usually requires treatment with eye drops and ointment 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.

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 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 advice about this.

Constipation is a common problem for children with EB, because of blistering around the bottom which makes it painful to poo. It's also a side affect of some types of painkillers.

If your child regularly experiences constipation, they may benefit from having a fibre supplement or laxative.

Surgery

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

Research is being carried out to try to find a cure, or at least more effective treatments, for EB.

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.

The information on this page has been adapted by NHS Wales from original content supplied by

NHS website nhs.uk