EB simplex (EBS) is one of four main types of epidermolysis bullosa (EB), a painful genetic skin 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.

  

EBS is the most common and mild-moderate form of EB whereby the missing protein, which would usually help bind the skin together, occurs within the upper layer of the skin – the epidermis. Approximately 70% of people with EB have EBS. 

 

What causes EB simplex? 

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, EBS is usually inherited dominantly, meaning that only one of the genes in a pair is affected.

Dominant types of EB are usually less severe than recessive, hence why EBS is usually milder than other types, although there are some rare recessive forms of EBS. 

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

DEBRA International, the central body of a worldwide network of EB charities provides a list of all rare subtypes here. 

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Symptoms of EBS 

Symptoms can vary widely among affected individuals but typically blistering is confined to the hands and feet and the blisters can heal without leaving scars, which is not the case for other types of EB, but hyperpigmentation (darkening of the skin) can occur at the site of the blister. 

Blistering and the associated itching can be made worse by heat, humidity and sweating. Hyperkeratosis (thickening of the skin) can occur which may affect mobility, nail dystrophy (distortion and discolouration) and milia (small white bumps) are also common in EBS. 

Researchers have identified 4 sub-types of EB Simplex: 

• Localised EBS (previously known as Weber-Cockayne type) is characterised by skin blistering that occurs anytime between childhood and adulthood and is usually limited to hands and feet. Later in life, the skin on the palms of the hands and feet may thicken and harden (hyperkeratosis) 

• EBS Intermediate (previously known as EBS Generalised Intermediate or Koebner type) is associated with widespread blistering that can be present from birth or early infancy. The blistering tends to be more severe than Localised EBS but less than EBS Severe.

• EBS Severe (previously known as EBS Generalised Severe or Dowling-Meara EBS) is the most severe type of EB Simplex where extensive blistering can occur anywhere on the body, including inside the mouth. Blistering tends to be present from birth and may improve with age but older individuals can also be affected by hyperkeratosis. Severity and the extent of blistering varies greatly and in very severe cases can sadly be fatal in infancy.

• EBS with mottled pigmentation is the fourth sub-type of EB Simplex where skin fragility is present at birth and over time brown pigmentation interspersed with spots develop on the body. The pigmentation can reduce and disappear in adult life. 

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Treatments

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 Community Support Team are committed to help patients and families deal with the challenges that EB brings.

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Support 

If you suspect you or a family member have EBS, you can ask your GP for a referral to a specialist and once you have a diagnosis, 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. Get in touch to find out more about how we can help people living with EB, their families and carers.

When I was born DEBRA did not exist and I was not diagnosed with EB until my mid twenties. When DEBRA came about, their support made such a difference. They are a key player in helping me gain independence and a greater understanding of the condition. DEBRA EB Community Support service covers a range of issues which it wasn’t able to over 40 years ago, from assisting with housing applications to offering mental health support.

Jo, DEBRA trustee with EBS

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Life with EB simplex

Meet Heather, she doesn't let her EB stop her from doing anything. She's the first woman in the world to qualify as a tank paintball instructor, a physically demanding role that many people would think twice about. But Heather is fearless - she's also the only woman in the world eligible to run a tank paintball battle. Read more here.

The most frustrating thing about EB is the pain. There's nothing you can do to get away from it. It's hard to make others understand what it's really like.

Heather, with EBS 

 

Find out more about other types of EB

 

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