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 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 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 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.

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.

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.

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 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.

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:

• 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

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, 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.

Dental care

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.

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 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.

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 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

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.

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.