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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 other types can be life threatening.

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 can start anytime from early childhood to adulthood.

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.

In this form of EBS, blisters can appear 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.

There may also be scarring and milia (small white spots) on the skin.

The symptoms usually begin at birth or during 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.

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.

Intermediate JEB causes widespread blistering of the skin and mucous membranes and sometimes the eyes and some internal organs.

Blistering of the scalp is common, and may lead to scarring and permanent hair loss.

Other symptoms include:

  • slow-healing injuries, especially of the lower legs
  • deformity or loss of fingernails and toenails
  • changes to skin colour that look like large, irregular moles
  • possible scarring of the skin

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 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.

Severe JEB is one of the most severe types of EB, but it's extremely rare.

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

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 severe JEB are common and include:

Because of these complications, the outlook for children with severe JEB is very poor. Many babies with severe JEB die within a few months.

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 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 start until later in childhood.

Recessive DEB can be one of the most severe types of EB. It can cause severe and widespread skin blistering that 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 develop on the mucous membranes, particularly inside the:

  • mouth
  • oesophagus (tube connecting the mouth and stomach)
  • anus (bottom)

Very fragile gums and blisters or scarring in and around the mouth may 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 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.

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