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Dystrophic EB (DEB)

Dystrophic EB (DEB)

Dystrophic EB (DEB) 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.

DEB can be moderate or severe depending on the subtype. It affects the lower layer of the skin – the dermis, which is where the blistering occurs.

 

What causes Dystrophic EB (DEB)?

Every person has two copies of each gene, the gene mutation that causes EB can be in one or both genes in a pair. DEB can be inherited dominantly or recessively.

Dominant EB means they’ve inherited one faulty gene from one parent, which becomes the dominant gene, whilst the other gene in the pair is normal.

Recessive EB is when the individual has inherited two faulty genes – one from each parent. 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 DEB

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

  • Dominant Dystrophic EB (DDEB) is generally a less severe form of the two, whereby blistering may be confined to hands, elbows and feet but can also be widespread. Scarring, milia (white bumps), abnormal or absent nails are all common. A normal lifespan is possible and a range of treatments are available to help with pain and itch. The chances of a child developing DDEB is 50%.
  • Recessive DEB (RDEB) - (formerly Hallopeau-Siemens RDEB) - is considered one of the most severe forms of EB with widespread blistering, including internally, which can affect the eyes, throat, bowels and digestion making daily life very difficult. The fingers and toes can fuse together as a result of the scar tissue trying to heal the blisters. Squamous cell carcinoma is common and therefore life expectancy is reduced to around 30 years of age. The chances of a child inheriting RDEB from carrier parents is 25%.

 

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 DEB, you can contact our Community Support Team for additional support. Our team 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 Dystrophic EB - meet Fazeel

“I can’t eat hard foods, like crisps, because that creates blisters in my mouth, and I find it difficult to eat a lot because that also causes blistering.”

Did you know 20% of the EB population in the UK live with Dystrophic EB (DEB)? And I am part of this statistic. The seriousness of my condition varies. I can lead what most people would think is a ‘normal life’ but my skin scarring, the fusion of my fingers and the depletion of my skin tissue all increase as I get older which will make life even trickier for me.

Find out more about other types of EB