Dystrophic EB (DEB) 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. 

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.

Contents:

• What causes Dystrophic EB (DEB)? 
• Symptoms of DEB
• Treatments
• Support
• Life with DEB

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 types of EB are usually less severe than recessive

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.

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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. The chances of a child inheriting RDEB from carrier parents is 25%.

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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 here to help patients and families deal with the challenges that EB brings.

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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. 

I first became aware of DEBRA shortly after the birth of our first son Finn who was born with EB. The condition has been genetically passed down on my side of the family, and being a sufferer of the condition myself, I found out during my pregnancy that I had a one in two chance of passing the gene on.

My second son, born a year later, was also diagnosed with the condition. It was throughout both pregnancies, and during those first very daunting months as a new parent, that I really became aware of DEBRA and the support they deliver to EB patients. I was guided and supported by a team of specialist EB nurses and paediatric consultants who are part-funded by DEBRA. DEBRA’s support to my family continued as the boys turned into toddlers and onwards. DEBRA has been a key player in helping them gain their independence and autonomy.

Simone, member of board of trustees, with DEB

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Life with Dystrophic EB

Meet Fazeel, he's determined to try to live as normal a life as possible but his EB makes that difficult at times.

Fazeel took part in our EB Awareness Week campaign in 2020 to help raise awareness using #EBtome, highlighting the different challenges faced by the EB community.

I can’t play roughly, like other children. Although I go on the trampoline, I don’t do any tricks. When you have EB, a lot of things are restricted. You have to think about every single thing you do. Other children don’t have to do that.

That’s why I want to find a cure for EB if DEBRA hasn’t found one by the time I’m old enough to be a doctor.

Fazeel, with DEB

Other types of EB

 

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