Junctional EB (JEB)

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.

Junctional EB skin layer 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.

Our son, Dylan was born in 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.

Simon & Karen, whose first son, Dylan had JEB

Contents:

What causes Junctional EB (JEB)?
Symptoms of JEB
Treatments
Support
Life with JEB

What causes Junctional EB (JEB)?

Junctional EB Damaged DNA 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.

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.

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. 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.

Life with Junctional EB

Junctional EB: The Talbot family Meet the Talbot family, their life was turned upside down when following a healthy pregnancy, their son Dylan was born and was given the terminal diagnosis of Junctional Generalised Severe EB. Dylan sadly passed away at 3 months old. Simon and Karen went on to have two healthy babies but are determined to help #FightEB in Dylan's memory.

EB is inherited and we are both carriers of the gene. This meant that it was likely our baby would have the same type of EB as Dylan. Thanks to advances in research and funding from DEBRA, we were able to test our baby before she was born. Knowing we would not have to see our new-born go through the same pain and distress Dylan did was a massive relief.

Simon & Karen, whose first son Dylan had JEB

Find out more about other types of EB

Latest

Corporate Case Studies

From skydiving to Tough Mudder races, we are so grateful for the lengths our corporate partners go to to support DEBRA and the EB community.
Emergency heatwave appeal

With the high temperatures set to continue, we need your help. We are aiming to raise £10,000 to help stop the pain for people living with EB.
Emergency heatwave appeal

With the high temperatures set to continue, we need your help. We are aiming to raise £10,000 to help stop the pain for people living with EB.
The science behind EB research

Knowing a bit more about the science behind EB research can help to understand the research that we are funding and how it might affect DEBRA UK members.

Kindler EB (KEB)

Named after the protein Kindlin1, which is the protein affected by the defective gene. This type of EB is very rare but fragility can occur at multiple levels of the skin.
Dystrophic EB (DEB)

Can be mild or severe (dominant or recessive). The defective gene and fragility occurs below the basement membrane within the superficial dermis.
EB Simplex (EBS)

The most common and mild-moderate form of EB whereby the defective gene and fragility occurs within the upper layer of the skin – the epidermis.
Testing & diagnosis

Laboratory diagnosis is essential to determine the type of EB and the precise cause at the genetic (DNA) and protein levels, but other diagnostic tools are also available.
What is EB?

Epidermolysis Bullosa (EB) is a painful genetic skin blistering condition with no cure. Find out about different types of EB, causes, symptoms and treatments.