Junctional EB has (in children with the Herlitz type) a bad outlook; most children die within the first two years of life from malnutrition and anaemia that are caused by severe blistering in the larynx, the pharynx and the oesophagus.

The symptoms of junctional EB are particularly notable in the pharynx and the gastrointestinal tract. Characteristic for the disorder are the cutaneous defects with formation of hypergranulation tissue on the face. These cutaneous defects do only develop after a couple of months. Additionally, there are voiding and eye problems. These symptoms will be discussed below.

The formation of blisters under the nails at birth is typical for junctional EB. The skin of children with junctional EB is extremely sensitive and blisters may already appear after the most gentle touch and rubbing. Lifting should be carried out extremely carefully. The child must never be lifted from underneath the arms and sliding should be avoided absolutely. However, the child will always have blisters because of his or her own movements. The use of disposable nappies causes blisters on the places where the elastic is placed around the legs. Also, these nappies absorb a lot of fluid. In junctional EB this absorption mechanism can cause wounds to bleed.

Often there are wounds in and around the nostrils which lead to crustation. This crustation may then again result in (partial) blockage of the nose. The child will then have to start breathing through the mouth which leads to a dry mouth and dry mucous membranes. Because of this the child may sometimes find it difficult to suck a bottle or nipple and will therefore have to be fed with a spoon.

Many children with junctional EB (Herlitz type) become hoarse within a few days after birth due to blisters on the vocal cords. Presentation of this feature is typical for junctional EB. Blisters often burst spontaneously after which the wounds start to heal. In the course of time the condition of the pharynx deteriorates because of the recurring blisters. Swelling under the vocal cords can cause restriction of the larynx which may lead to a serious shortness of breath in children. The effects of junctional EB on the pharynx are always life-threatening and this is the main cause of death in this group of children.

The mouth and throat problems may cause a serious disruption of nutritional intake. Because of this the child barely grows or not at all while there is a higher need for nutrients because the body loses proteins along with the wound exudate and has to sustain the normal metabolism, too.

In children with a severe form of junctional EB, tube feeding will improve the calorie intake but this has unfortunately hardly any long-term effect because there is also a disruption of the intake of nutrients by the gastrointestinal tract. It is not clear whether there is a digestive problem or not.

Because of the poor nutritional status the children become increasingly drowsy and will also have less desire for food.

A specific group of children with junctional EB is born with

an obstruction between the stomach and duodenum. Surgical elimination of this obstruction does not always have a good outlook: 80% die within a year.

The teeth of children with junctional EB are often bad as a result of the disrupted enamel formation. Because of the bad condition these children are in, dental treatment is not appropriate. To suppress the `nerve pain' by, for example, amitriptyline is not a good solution.

Junctional EB often causes corneal wounds by rubbing which subsequently leads to corneal scarring after some time.

Scarring of the eyelid may also occur as the result of recurrent blistering. The scars cause small contractures to the eyelids because of which the eyelid is `pulled away' from the eyeball. Due to this there are problems with the tear drainage and the corneal moisturizing. When there are severe contractions of the eyelids, the eyes can no longer be closed

The child sometimes displays voiding problems when blisters or blood clots obstruct the urinary tract. This may lead to urinary retention and finally impaired renal function because of which dialysis is required.

Children with junctional EB suffer from a lot of pain from both external and internal wounds. Pain, caused by blisters and wounds on the skin can be reduced by the implementation of appropriate wound care.