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Junctional EB (JEB)

Junctional EB (JEB)

Junctional EB (JEB) is one of five main types of Epidermolysis Bullosa (EB), a painful genetic condition causing the skin to tear or blister at the slightest touch. Most types of EB are caused by gene mutations which affect different layers of the skin and sometimes internal organs.

JEB is a rare moderate to 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.

 

What causes Junctional EB?

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.

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

 

Symptoms of JEB

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.

There are two types of Junctional EB:

  • 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.

 

Treatments

There is currently no cure for EB, our work at DEBRA UK aims to change this. However, there are treatments available which help with the management of pain and itch. If you are living with EB speak to your healthcare provider about treatment options. We fund research projects aiming to find additional treatments as well as a cure, and our Community Support Team are always here to help patients and families deal with the challenges that EB brings.

 

Support

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. Find out more about how we can help people living with EB here

 

Life with Junctional EB - meet the Talbot family

“90% of babies born with Junctional EB don’t live to see their first birthday; after a healthy and normal pregnancy we were both in shock and completely heartbroken.”

Karen and Simon Talbot lost their son Dylan to Junctional EB aged 3 months and 1 day.

"Our son Dylan was born in June 2017 and was immediately rushed off to the Special Care Baby Unit. We were told he had Epidermolysis Bullosa (EB) and that we couldn’t hold him in case we caused his skin to blister. Dylan had a skin biopsy taken to find out what type of EB he had. EB specialists contacted us from Great Ormond Street Hospital to give us the terminal diagnosis of Junctional Generalised Severe EB. Our entire world then fell apart. They explained the body needs a certain amount of protein to heal - Dylan had none. His blisters were both external, on the skin, and internal."

Find out more about other types of EB