Epidermolysis bullosa 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 others can be life threatening.

Different types include:

EB simplex (EBS)
dystrophic EB (DEB)
junctional EB (JEB)
Kindler EB (KEB)

EB simplex (EBS)

The symptoms of EBS can range from localised to widespread.

Localised EBS

Localised EBS is the most common type of EB.

It causes painful blisters on the palms of your hands and soles of your feet. These often develop after mild or moderate physical activity, such as walking or playing sport.

Blisters can also happen on other parts of your body. For example, you can get blisters on your bottom or inner thighs from activities such as cycling.

Sweating a lot can make the blisters worse, so localised EBS may affect you more during summer.

The blisters usually heal and do not leave scars.

Symptoms can start anytime from early childhood to adulthood.

As an adult your skin and nails may get thicker.

This can happen on your:

fingernails and toenails
palms of your hands
soles of your feet

Intermediate EBS

In this type of EBS, blisters can appear anywhere on your body in response to damage or rubbing.

Symptoms usually begin at birth or during childhood. They are usually worse during hot weather.

You may get:

mild blistering inside your mouth
scars and milia (small white spots) on your skin
thickened skin on the palms of your hands, soles of your feet, toenails and fingernails

Generalised severe EBS

This is the most severe type of EBS. The symptoms usually develop at birth.

A child will have widespread blistering. In the most severe cases, a child can develop up to 200 blisters in a single day.

The blistering can make a baby's skin more likely to get infected. This may affect their normal feeding pattern. This means they may not grow and develop at the same rate as other babies.

Painful blisters on the soles of the feet can affect a toddler's ability to walk. This means they may start to walk later.

They may get blisters inside their mouth. This can make feeding difficult.

Thickening or loss of the fingernails and toenails is another common symptom.

The blistering gradually improves as they get older. Adults may only get occasional blistering.

But it's common for the skin of your palms and soles to become thicker with age. This may make it harder to walk.

Junctional EB (JEB)

Symptoms of JEB can range from moderate to life-threatening (in rare cases).

Intermediate JEB

Intermediate JEB causes widespread blistering of the skin and mucous membranes (soft tissue lining the body's organs). It can also affect your eyes and some internal organs, such as your food pipe (oesophagus).

You may have scars on your head. If you lose your hair it may not grow back.

Other symptoms include:

slow-healing injuries, especially of the lower legs
losing fingernails and toenails
large, irregular moles
possible scarring of the skin
tooth decay or damage to tooth enamel
blisters and ulcers in your mouth - this can make eating difficult

Some people with JEB also have blistering or scarring of the urethra (tube that carries pee out of the bladder).

The symptoms usually develop at birth or shortly afterwards. They can get better with age.

Adults with JEB have an increased risk of developing skin cancer. It's advised to have frequent check-ups (possibly twice a year) with a dermatologist.

Severe JEB

Severe JEB is one of the most severe types of EB.

It causes widespread blistering of your skin, mucous membranes and internal organs.

It can also cause blisters and ulcers on your:

penis or vagina
bottom (anus)
nose and mouth
fingertips
toes
neck
mouth and throat
eyes

Severe JEB can also lead to:

Because of these complications, the outlook can be difficult. Many babies with severe JEB may not survive beyond their first months. But each case is different.

Ask the doctor or care team any questions you may have about the condition. They are there to help.

Dystrophic EB (DEB)

Symptoms of DEB range from mild to severe.

Dominant DEB

Dominant DEB causes blistering on certain parts on the body, such as hands, feet, arms and legs. This usually causes scars. Milia (tiny white spots) may also form around blisters.

Nails usually become thickened and abnormally shaped, or you may lose your nails. 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. The only sign of the condition may be abnormally shaped or missing nails.

The symptoms of dominant DEB usually develop at birth or shortly afterwards. But they may not start until later in childhood.

Recessive DEB

Recessive DEB can be one of the most severe types of EB. It can cause severe and widespread blisters and ulcers.

Repeated scarring to hands and feet can cause:

loss of nails
scar tissue to develop between fingers and toes

A person's hair may stop growing in places if they have repeated blisters on their scalp.

Widespread blistering can also develop on the mucous membranes inside the:

mouth
food pipe and digestive tract
bottom (anus)

Blisters or scars in and around the mouth may cause problems with speaking, chewing and swallowing.

As a result, many children with this form of DEB will have:

anaemia
malnutrition
delayed or reduced growth

Their eyes can also be affected by blistering and scarring. This is painful and can lead to vision problems.

The symptoms of recessive DEB are usually present at birth. There may be areas of missing skin at birth, or blistering that develops very shortly afterwards.

Recessive DEB and skin cancer

People with this type of DEB have a high risk of skin cancer.

It's recommended to have frequent checks (possibly twice a year) with a dermatologist.

Kindler EB (KEB)

KEB is a rare form of EB. It is also called Kindler Syndrome.

It can cause widespread blistering, which begins at birth but decreases with age. It can also cause damage to your mucous membranes and internal organs.

Symptoms include:

thickening of the skin on the hands, feet and neck - sometimes your skin changes colour from your normal skin colour
thickening of the skin on the palms of the hands and soles of the feet
loss of ridges and lines of the skin on the hands, such as fingerprints
photosensitivity (skin can easily be damaged by the sun's rays)
thickening or loss of nails

In some cases, KEB can also cause inflammation or damage to your:

teeth and gums
food pipe
eyes and eyelids

KEB and skin cancer