Junctional EB

What causes Junctional EB (JEB)?

Every person has two copies of each gene, the gene mutation that causes EB can be in one or both genes in a pair. However, JEB is recessively inherited, meaning that both genes in a pair – one from each parent – is affected.

Recessive EB is usually more severe than dominant types and can come as a complete shock as the parents can be carriers without displaying symptoms themselves. 5% of all EB cases are JEB.

Source: DEBRA International

What are the symptoms of JEB?

• Blistering starts at birth or shortly afterwards and occurs within the basement membrane structure that keeps the upper and lower levels of skin together. Blisters tend to rupture leaving erosions, which can become extensive.
• Areas of ulcerated skin may be present at birth, most commonly on the lower limbs or top of the feet and ankles.
• Blisters and ulcers may heal with atrophic (indented or pitted) scarring and variable hypopigmentation (lightening of the skin) or hyperpigmentation (darkening of the skin).
• The oral mucosa (the mucous membrane lining the inside of the mouth) and eyes are usually affected.
• Corneal blistering and erosions are common; pannus formation (growth of fine blood vessels onto the clear corneal surface), scarring, and symblepharon (adhesion of the inner eyelid to the outer surface of the eyeball) may follow episodes of blistering.
• Scarring and non-scarring alopecia (hair loss) and thinning of the hair can also occur. Anaemia is common in severe JEB and, to a lesser extent, in intermediate JEB. Dental enamel is also affected.

Treatments

There is currently no cure for EB, our work aims to change this. However, there are treatments available which help with the management of pain and itch.

We fund research projects aiming to find additional treatments as well as a cure, and our EB Support Team are committed to help people and carers deal with the challenges that EB brings.