Junctional epidermolysis bullosa (JEB): symptoms, care and outlook

Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that make the skin very fragile, so that even minor friction or trauma can cause painful blisters. The NHS says the type of EB reflects where on the body the blistering takes place and which layer of skin is affected. Junctional epidermolysis bullosa (JEB) is one of the three main types, alongside epidermolysis bullosa simplex and dystrophic epidermolysis bullosa.

JEB is rare, and the NHS describes it as ranging from moderate to severe. Because it can affect the mucous membranes (the moist lining of the mouth, throat and other internal surfaces) as well as the skin, it can involve far more than the visible blisters. The condition is present from birth, so most families first meet it in the newborn period.

JEB is different from epidermolysis bullosa acquisita, a very rare autoimmune condition that usually starts after the age of 40 and is not inherited. That is a separate condition and is not covered here.

The NHS symptoms page describes two forms of JEB, and the difference between them matters a great deal to families.

In intermediate JEB there is widespread blistering of the skin and mucous membranes, and sometimes of the eyes and some internal organs. Blistering of the scalp is common and may lead to scarring and permanent hair loss. Injuries, especially on the lower legs, can be slow to heal. Fingernails and toenails may be deformed or lost, and the skin may develop colour changes that look like large, irregular moles. The NHS also says tooth enamel is not properly formed, so teeth may be discoloured, fragile and prone to decay, and that blisters and ulcers in the mouth may make eating difficult. Some people have urinary problems such as blistering or scarring of the urethra. Symptoms usually develop at birth or shortly afterwards and can improve with age, but the NHS notes that adults with this form have an increased risk of skin cancer, so regular review by a dermatologist familiar with EB is recommended.

Severe JEB is described by the NHS as one of the most severe types of EB, but extremely rare. It causes widespread blistering and persistent ulcers of the skin, mucous membranes and internal organs, with particular involvement of the genitals and buttocks, around the nose and mouth, the fingertips, toes, neck, the inside of the mouth and throat, and the eyes. Complications are common and include anaemia, tooth decay, malnutrition and delayed growth, dehydration, breathing difficulties and sepsis. The NHS states that, because of these complications, the outlook for children with severe JEB is very poor, and that many babies with severe JEB die within a few months.

EB is caused by a gene mutation that makes the skin more fragile. The NHS explains three ways a child can come to have EB: inheriting the faulty gene from a parent who also has EB; inheriting it from both parents, who are carriers but do not have EB themselves; or through a change to the gene that happens by chance when neither parent is a carrier.

Because several different genes can be involved across the EB family, the genetic result is an important part of diagnosis and of counselling for the wider family. Your clinical team and a clinical genetics service can explain what a particular result means for future pregnancies and for relatives.

According to the NHS, EB is usually diagnosed in babies and young children because the symptoms can be obvious from birth, although some milder types are not diagnosed until adulthood. If EB is suspected, the child is referred to a dermatologist, who carries out tests to determine the type of EB and to help draw up a treatment plan. This may include taking a small sample of skin (a biopsy) for testing.

Prenatal testing is sometimes possible. The NHS says an unborn baby can be tested for EB after the 11th week of pregnancy, using amniocentesis or chorionic villus sampling. It may be offered when a parent is known to be a carrier and there is a risk of a child with a severe type of EB. If the test confirms EB, the NHS says counselling and advice are offered.

There is currently no cure for EB. The NHS says treatment aims to ease and control symptoms, avoid skin damage, improve quality of life and reduce the risk of complications such as infection and malnutrition. Care is usually organised through a specialist centre and a team that can include a dermatologist, dentist, dietitian, physiotherapist, play specialist and a specialist nurse who acts as the main contact. Once symptoms stabilise it may be possible to arrange some treatment locally, although the NHS says this may not always be possible with more severe types.

Day-to-day care focuses on preventing friction and trauma and looking after wounds. The NHS lists the main elements in the table below.

The NHS advises that children with EB should not avoid physical activity or contact with other children altogether, even though they may need a carer in the playground and should avoid contact sports. A physiotherapist can recommend activities unlikely to cause blistering, such as swimming.

Seek advice from the GP or the specialist team as soon as possible if you suspect a skin infection, because the NHS warns an untreated infection can spread quickly, particularly in the more severe forms of EB. DEBRA UK says that in a medical emergency people with EB should call 999 or go to the nearest A&E, and it publishes emergency information for people with EB to prepare in advance.

DEBRA UK describes itself as the UK's EB patient support organisation and the largest UK funder of EB research. The NHS also names Cure EB, a charity that funds research. If you or your child has EB, the NHS says your clinical team will pass information to the National Congenital Anomaly and Rare Disease Registration Service, which helps researchers look for better ways to prevent and treat the condition; you can opt out at any time. Looking after your own wellbeing as a carer matters too, and the NHS points to carers' breaks and respite care.

In the UK, EB care for children runs through NHS specialist centres, so the main route is a referral from a GP, paediatrician or dermatologist. Because the condition is rare and the expertise is concentrated in a few centres, private providers play a limited part in EB care. If you are considering a private opinion, it is sensible to check that the clinician has specific experience of EB and that they will communicate with your NHS team, so that wound care, dressings and monitoring stay coordinated.