Epidermolysis bullosa – what are the signs and symptoms of Epidermolysis bullosa?

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

Picture of epidermolysis bullosa

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.

Read more about symptoms of different types of epidermolysis bullosa.

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 into pregnancy.

This may be offered if you or your partner are known to be a carrier of the faulty gene associated 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.

Read more about treating epidermolysis bullosa.

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.

Read about carers’ breaks and respite care and get tips on caring for a disabled child.

Epidermolysis bullosa – find out about the signs and symptoms of Epidermolysis bullosa

Symptoms of epidermolysis bullosa (EB) can vary in severity, ranging from mild to life-threatening.

Although specific symptoms depend on the type of EB, there are some common features, including:

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

Symptoms of epidermolysis bullosa simplex (EBS)

The symptoms of the most common variants of epidermolysis bullosa simplex (EBS) are described below.

EBS (localised)

Localised EBS is the most common form of EBS. It’s characterised by 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.

Although the blisters often form on the hands and feet, it’s not uncommon for them to develop on other parts of the body as well, such as the buttocks or inner thighs, after they’ve been subjected to friction during activities such as riding a bike.

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

Symptoms usually become apparent during early childhood, although mild cases may go undiagnosed until early adolescence.

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

EBS (generalised intermediate)

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

There may be mild blistering of the mucus 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 their fingernails and toenails.

EBS (generalised severe)

This form of EBS is the most severe type, where children experience 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 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 through childhood and adolescence – so adults may only experience occasional blistering.

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

Symptoms of junctional epidermolysis bullosa (JEB)

There are two main variants of junctional epidermolysis bullosa (JEB), discussed below.

JEB localised (non-Herlitz)

Non-Herlitz JEB causes widespread blistering of the skin and mucus membranes. Blistering of the scalp is common and may lead to scarring and permanent hair loss.

Other common symptoms include:

long-term injuries to the skin and underlying tissue, 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 the urinary tract, such as blistering or scarring of the urethra (tube urine passes through from the bladder).

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 dermatologist (skin specialist) familiar with EB is recommended.

JEB generalised (Herlitz)

This is the most severe type of JEB, although it’s incredibly rare.

Herlitz JEB causes widespread blistering of both the skin and the mucus membranes. In particular, the following areas of the body are affected by blistering and chronic 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 Herlitz JEB are common and include:

anaemia

tooth enamel defects and decay

malnutrition and delayed growth

dehydration

breathing difficulties

sepsis

Because of these complications, the outlook for children with Herlitz 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 five years.

Sepsis and respiratory failure (due to blistering and narrowing of the airways) are the most common causes of death.

Symptoms of dystrophic epidermolysis bullosa (DEB)

The three most common variants of dystrophic epidermolysis bullosa (DEB) are discussed below.

Dystrophic EB (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 EB (recessive, severe generalised)

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

mouth

oesophagus (tube connecting the mouth and stomach)

anus

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 experience 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 is estimated that more than half of people with severe generalised recessive DEB will develop skin cancer by the time they are 35.

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