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Kindler epidermolysis bullosa (KEB)

 

Diagram of a cross-section showing a blister indicative of labeled "KEB" in red beneath a yellow surface layer with a green and beige base.

Kindler EB (KEB) 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. 

Kindler EB is the rarest type of inherited EB. Blistering can occur in all layers of the skin or internal organs but tends to affect the extremities.

About kindler EB (KEB)

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, Kindler EB is inherited recessively 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. The chances of a child inheriting Kindler EB is 25%.

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

Kindler EB (previously Kindler Syndrome) is very rare, and although can be severe, often a normal life expectancy is possible. A range of treatments are available to help with symptoms:

  • Blistering can affect the whole body including internal organs but tends to be most severe on hands, feet and moist linings such as the eyes, intestines, oesophagus, mouth, urinary tract and genitals.
  • There is often a high sensitivity to bright light, meaning the skin can burn easily in the sun.
  • Discolouration of the skin and hyperkeratosis (thickening of skin) can occur on the feet and palms.
  • Gingivitis (gum disease) is common and blistering in the mouth can make eating uncomfortable.
  • Inflammation of the intestines is also common, which can affect digestion.
  • There is an increased risk of non-melanoma skin cancers.

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

If you or your family member have been diagnosed with Kindler EB, 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.

 

“DEBRA not only support us with EB but also take the time to support the carers who see the daily battle of EB and who are equally affected by EB.”

DEBRA member