Epidermolysis Bullosa

Overview

Epidermolysis bullosa (EB) is the name for a group of rare inherited conditions that make the skin very fragile. Even gentle rubbing, scratching, or heat can cause blisters, tears, or open sores. The word 'epidermolysis' means the top layer of skin separates from the layers below, and 'bullosa' means blisters. In EB, the 'glue' proteins that normally hold skin layers together are missing or do not work properly. This is not contagious, and it is not caused by anything a parent did during pregnancy.

EB is rare. It affects people of all backgrounds and genders, but it is not something most people will ever encounter.

EB can affect anyone, but it is usually diagnosed in babies and young children. Some milder forms may not be noticed until later in childhood or even adulthood. Because EB is inherited, it often runs in families, but a new genetic change can also happen for the first time in a family with no history of the condition.

Symptoms

Common symptoms

• Skin that blisters or tears from very minor friction, such as rubbing or bumping.
• Open sores or wounds that may heal slowly or leave scars.
• Blisters inside the mouth, on the hands, feet, elbows, or knees.
• Thickened skin on the palms of the hands or soles of the feet.
• Itching, pain, or a burning feeling in affected skin.
• Changes in the nails, such as thickened or lost nails.
• Small white bumps, called milia, that can appear after blisters heal.

Symptoms in children

• Blisters on areas that get rubbed, such as hands, feet, knees, and elbows.
• Painful mouth blisters that can make feeding or swallowing difficult.
• Poor weight gain or slow growth because eating is uncomfortable.
• A hoarse or weak cry if the voice box is affected.
• Wounds that take longer than usual to heal.
• Blisters that appear after normal handling, diaper changes, or crawling.

Symptoms in older adults

• In milder types, blisters may appear mainly on the hands and feet after walking, exercise, or manual work.
• Thickened nails or repeated nail loss.
• Dental problems, including tooth decay or gum disease, which can be more common.
• Difficulty swallowing if the tube that carries food to the stomach becomes scarred.
• Skin that remains fragile and needs ongoing protection from friction.

Causes

Main causes

• Genetic changes (mutations) that affect proteins which act like glue to hold the layers of skin together.
• These genetic changes can be passed from parent to child, or they can happen for the first time in a person with no family history.
• Different types of EB are caused by changes in different genes and proteins, which is why symptoms can vary.

When to see a doctor

See a doctor urgently if:

• Signs of infection in a wound, such as fever, spreading redness, or pus.
• Difficulty breathing or a hoarse, high-pitched sound when breathing.
• Severe pain, especially if it is not relieved by the care plan you already have.
• Signs of dehydration, such as a dry mouth, sunken eyes, or very little urine.
• New blisters in the mouth or throat that make swallowing difficult.

Book a routine appointment if:

• You suspect you or your child may have EB and want a proper assessment.
• A wound is not healing or looks different from usual.
• Feeding, weight gain, or growth is a concern.
• You need advice on managing daily skin care or preventing blisters.
• You are planning a pregnancy and have a family history of EB.

Diagnosis

Doctors usually suspect EB when a baby or child has fragile skin and blisters from very little friction, especially if there is a family history. The diagnosis is confirmed by a specialist (often a dermatologist or paediatrician) using a small skin sample and/or a genetic blood test. Your GP can refer you to a specialist centre for this assessment.

Tests that may be done

• Skin biopsy: a tiny piece of skin is taken after numbing the area. It is looked at under a microscope to see which layer of skin is separating.
• Genetic testing: a blood or saliva sample is checked for changes in the genes known to cause EB.
• Sometimes prenatal testing is offered to families with a known history of a specific gene change, to help with pregnancy planning.

What to expect at your appointment

You may be referred to a specialist team that includes a dermatologist, EB nurse, dietitian, dentist, and sometimes a genetic counsellor. The process can take a little time, but the results help guide the right care and support. The team will explain each step and answer your questions.

Treatment

There is currently no cure for EB, but there are many ways to protect the skin, manage wounds, control pain, and support nutrition and quality of life. Treatment is tailored to each person and usually involves a team of health professionals working together.

Self-care at home

• Handle skin gently and avoid rubbing, scratching, or tight clothing.
• Use soft, breathable fabrics and seamless clothing where possible.
• Keep the skin cool and avoid overheating, which can make blistering worse.
• Use non-stick dressings and gentle medical tape or wrap bandages as advised by your care team.
• Keep fingernails short to reduce scratching damage.
• Moisturise the skin regularly with a gentle, fragrance-free product recommended by your healthcare provider.
• Follow your team's instructions for popping or draining blisters — never do this without training, as it can increase infection risk.
• Eat a balanced, high-energy diet with enough protein to help skin heal.

Medical treatments

Medical care focuses on wound healing, infection control, pain relief, and nutrition. This may include special dressings and bandages, prescribed creams or ointments, and antibiotics if a wound becomes infected. Pain can be managed with medicines chosen by your doctor, and some people may need extra nutritional support such as high-calorie drinks or feeding tubes. Some newer treatments aim to improve skin strength or reduce blistering, but they are still being studied and are only offered through specialist centres or clinical trials. Always talk to your healthcare provider before trying any new treatment.

When is surgery considered?

Surgery is not usually the first step, but it can help with some complications. For example, if scarring narrows the food pipe (oesophagus), a procedure can widen it to make swallowing easier. Surgery can also release fingers that have become stuck together by scarring, or place a feeding tube directly into the stomach when nutrition is a serious concern. These decisions are made with a specialist team and only when the benefits clearly outweigh the risks.

Living with this condition

Living with EB often means building a daily routine around skin care. This may include changing dressings, checking for new blisters, and protecting the skin from friction. Many people find that planning ahead helps — for example, carrying dressings and blister care supplies when leaving home. With the right support, children with EB can go to school, make friends, and take part in many activities, though some contact sports may need to be avoided. Adults with EB can work, study, and enjoy relationships. It is important to focus on what you can do and to ask for help when you need it.

Lifestyle tips

• Choose soft, loose-fitting clothes with flat seams.
• Use padding on pressure points, such as knees and elbows, during activities.
• Avoid activities that involve heavy friction or blows to the skin; consider low-impact options like swimming with waterproof dressings if your team says it is safe.
• Keep your home cool and avoid hot, humid environments.
• Plan travel carefully and bring extra dressings, pain relief, and a letter from your healthcare team if needed.
• See your dentist regularly, as dental care is an important part of EB management.

Diet and exercise

Good nutrition is very important because healing skin uses a lot of energy and protein. Some people need extra calories or a soft diet if mouth blisters make chewing painful. A dietitian can help create a plan that works for you or your child. Exercise is still important for strength and mobility, but it should be low-impact and avoid friction. Swimming can be a good choice if the skin is protected and any open wounds are covered. A physiotherapist can suggest safe ways to stay active and prevent joint stiffness.

Mental health and emotional wellbeing

Living with a visible, long-term condition can feel overwhelming at times. It is normal to feel sad, anxious, frustrated, or isolated. Talking to a counsellor, psychologist, or a trusted friend can help. Your healthcare team can refer you to mental health support. If you ever feel very low or have thoughts of harming yourself, please contact your local emergency number or a mental health crisis service right away. You do not have to cope alone.

Prevention

EB cannot be prevented because it is caused by genetic changes. If you have a family history of EB, genetic counselling can help you understand the chance of passing it on and discuss options for family planning. EB is not caused by anything during pregnancy, and nothing a parent did caused it.

Vaccines

There is no vaccine to prevent EB. Routine childhood and adult vaccines are generally recommended for people with EB to protect against infections, but the injection site may need special care to avoid damaging fragile skin. Talk to your healthcare provider about the best way to receive vaccines safely.

Screening programmes

There is no routine screening for EB in the general population. If you have a family history of a known gene change, you may be offered genetic counselling and, in some cases, prenatal testing. This is a personal choice and is best discussed with a genetic counsellor.

Complications

If left untreated

• Wound infections, which can sometimes spread to the blood and become serious.
• Poor nutrition, dehydration, and slow growth, especially in children.
• Anaemia (low red blood cell count) from ongoing blood loss or poor nutrition.
• Scarring that can limit movement or cause fingers and toes to become stuck together.
• Dental problems, including severe tooth decay and gum disease.
• Narrowing of the food pipe, making swallowing difficult.
• An increased risk of a type of skin cancer in some severe forms of EB, especially in adulthood.

Long-term outlook

The outlook for EB depends on the type and how severe it is. People with milder forms often have a normal lifespan and can manage symptoms with careful skin care. People with more severe forms may face more challenges, but advances in wound care, nutrition, and medical support have greatly improved quality of life and life expectancy. Research into new treatments is ongoing, and many people with EB live meaningful, fulfilling lives. Focus on working closely with your care team to manage symptoms and celebrate the things that bring you joy.

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