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Junctional epidermolysis bullosa (JEB)

 

Diagram of layers with a red section labeled "Blister (JEB)" in the middle, showing a separation or blister between two layers.

Junctional EB (JEB) is one of four main types of epidermolysis bullosa (EB), a painful genetic condition causing the skin to tear or blister at the slightest touch. The four main types of EB are caused by gene mutations, which result in faulty or missing proteins in different layers of the skin and sometimes internal organs. 

JEB is a rare moderate-severe form of EB affecting the basement membrane, which is the structure that keeps the epidermis (outer) and dermis layers together, meaning the skin breaks apart easily causing blistering.

About 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.

Find out more about the difference between dominant and recessive EB.

There are two main subtypes of JEB with different symptoms and outcomes. Typically blistering is apparent at birth or shortly after and can affect the whole body.

  • Intermediate JEB (previously known as JEB Generalised Intermediate or Non-Herlitz JEB). This is the less severe form of the two whereby blistering may be confined to hands, elbows and feet. Alopecia (hair loss), malformed finger and toenails and irregular tooth enamel may be evident. A normal lifespan is possible and a range of treatments are available to help with pain and itch.
  • Severe JEB (previously known as JEB Generalised Severe or Herlitz JEB) can be very severe and is often fatal in infancy due to the complications that arise from such severe blistering across the whole body and internal organs, making it difficult for infants to feed and digest food.

There is currently no cure for EB, our work at DEBRA 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 Community Support Team are committed to help patients and families deal with the challenges that EB brings.

If you or your family member have been diagnosed with JEB, you can contact our Community Support Team for additional support. Our team aim to support the whole EB community regardless of the type or severity, we have a range of practical, emotional and financial support options.