17792 Epidermolysis Bullosa

Overview

Epidermolysis Bullosa (EB) is a rare group of inherited conditions that make the skin extremely fragile. Even minor friction, rubbing, or injury can cause the layers of skin to separate and form painful blisters. The blisters can appear anywhere on the body and sometimes inside the mouth or throat.

No, EB is rare. It affects a small number of people worldwide, but the exact rate varies by country.

EB can affect people of any ethnic background. It appears in both boys and girls. Most people inherit the condition, but sometimes it occurs for the first time in a child with no family history.

Symptoms

Common symptoms

• Blisters on the hands, feet, knees, or elbows after minor friction
• Skin that seems very fragile and peels easily
• Blisters inside the mouth, throat, or around the eyes
• Thickened or blistered skin on the palms or soles
• Nails that are thick, loose, or misshapen

Symptoms in children

• Blistering within the first weeks of life
• Crying or distress when touched or handled
• Blistering around the nappy area or where clothing rubs
• Difficulty feeding if blisters form in the mouth

Symptoms in older adults

• Mild blistering that may have been dismissed as ordinary injury
• Repeated scarring that can make joints stiffen
• A higher chance of developing skin cancer later in life, especially in certain types of EB

Causes

Main causes

• A change (mutation) in one of several genes that produce proteins holding the skin layers together
• These gene changes make the skin layer separate under even slight friction
• The condition is usually inherited from one or both parents, but it can also happen without a family history

Risk factors

• Having a parent or close family member with EB
• Being born to parents who carry the affected gene without having symptoms themselves

When to see a doctor

See a doctor urgently if:

• If you or your child has blisters with signs of infection such as fever, spreading redness, or pus
• If blisters make it hard to breathe, swallow, or open the eyes

Book a routine appointment if:

• If you keep getting blisters from minor friction and they are slow to heal
• If you notice unusual skin fragility in yourself or your child, even without a family history

Diagnosis

A doctor will examine the skin and ask about your medical and family history. Since EB is rare, you will be referred to a dermatologist (skin specialist) or a specialist genetic clinic for confirmation.

Tests that may be done

• Skin biopsy – a tiny sample of skin is taken and examined under a microscope
• Immunofluorescence mapping – a special test to see which skin layer separates
• Genetic testing – a blood or saliva sample to look for gene changes linked to EB

What to expect at your appointment

Diagnosis may take a few weeks, as the samples need to be sent to a specialist laboratory. The results will help identify the exact type of EB and guide your treatment plan.

Treatment

There is currently no cure for EB, but treatment helps manage blisters, reduce pain, prevent infection, and keep skin as healthy as possible. Your care team will often include a dermatologist, nurse specialist, dietitian, and physiotherapist.

Self-care at home

• Follow the dressing plan given by your nurse or doctor
• Clean new blisters gently with sterile liquid from a trusted pharmacy, as instructed
• Use non-stick dressings or soft padding to protect fragile areas
• Do not burst blisters – let them heal or have a professional drain them carefully
• Keep fingernails short and filed to avoid scratching

Medical treatments

Doctors may use special dressings that help wounds heal, prescription creams or ointments to calm the skin, and oral medicines for pain. If an infection occurs, a doctor may prescribe antibiotics, but only after seeing you and confirming the infection.

When is surgery considered?

Surgery is sometimes needed for complications. For example, if blisters cause the food pipe (oesophagus) to become narrow, a surgeon may gently stretch it to make swallowing easier. This is not part of routine care, but may be necessary in severe types of EB.

Living with this condition

Living with EB means building daily routines around protecting the skin and caring for blisters. Many people with EB lead full, active lives with the right support. The amount of care needed varies widely depending on the type and severity.

Lifestyle tips

• Choose soft, loose clothing and avoid rough seams or scratchy labels
• Use padding on corners of furniture and baby cot edges to reduce injury
• Keep your home cool – heat and sweat can increase blistering
• Use barrier creams if recommended by your care team, but only gentle products advised by a professional

Diet and exercise

A balanced diet helps your skin heal and keeps your body strong. Some people with EB find it easier to eat soft or liquid foods if blisters affect the mouth. Gentle activities like swimming or slow walking can keep joints mobile, but avoid sports that cause friction or falls. Always ask your doctor or physiotherapist for personalised advice.

Mental health and emotional wellbeing

Living with a visible skin condition can be emotionally challenging. You may feel self-conscious, anxious, or down at times. It is important to talk about these feelings with your doctor or a counsellor. You deserve support, not to cope alone. If you are in crisis or need urgent emotional help, contact your local emergency number or a suicide prevention helpline.

Prevention

EB is a genetic condition, so it cannot be prevented. However, careful skin protection and early treatment of blisters can reduce the number of new blisters and lower the risk of complications.

Vaccines

Routine vaccinations are important for everyone, including people with EB. Tell your doctor or immunisation nurse about the condition so they can choose the most comfortable injection site and technique.

Screening programmes

Genetic counselling may be helpful for families affected by EB to understand the risk of passing it on. This is a personal choice and best discussed with a specialist genetic counsellor.

Complications

If left untreated

• Infected blisters can spread and become a serious blood infection (sepsis)
• Repeated scarring can cause fingers or toes to fuse together or joints to become stiff
• Blistering in the mouth can make it hard to eat and lead to poor nutrition
• In some types of EB, there is a higher long-term risk of a type of skin cancer called squamous cell carcinoma

Long-term outlook

With good wound care, pain management, nutrition, and expert support, many people with EB live long and productive lives. The outlook depends on the type of EB, but research is making steady progress. It is honest to say that some forms are very serious, but there are many reasons for hope, including better treatments and growing patient support networks.

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