The Mölnlycke Health Care blog
Building awareness: Epidermolysis bullosa
By Prof Ncoza. C. Dlova, Chief Specialist/ HOD, Dermatology Department, Nelson R Mandela School of Medicine, University of KwaZulu-Natal (UKZN)
For the general public, epidermolysis bullosa (EB) is not a well-known condition. If recognized at all, some are aware of the term "butterfly children" – referring to children suffering from the condition and the fragility of their skin (said to be as fragile as butterfly wings).
Many children with EB die young and live short lives that are marked by discomfort, pain and other potential side effects (such as infections) as well as the inability to take part in normal childhood activities. Their lives, and that of their families, are affected by the need for constant care, pain management and treatment and often time and financial constraints – daily dressing change regimes are time consuming and the cost of care can be a major burden. EB has no known cure, only palliative day-to-day wound care and pain management.
EB is rare (one in 50,000 children get EB each year), which may be one reason that a cure has yet to be discovered. However, medical science is working on different approaches in search of a cure.
What it is and what causes it
Epidermolysis bullosa is a group of rare skin conditions that affects the connective tissue in skin. This is due to a deficiency in one of several proteins that anchor skin to the body. This disorder, almost always inherited, can cause the skin to tear and pull away from the body in response to friction, creating blisters and extreme fragility of the skin. Some forms of EB can also affect the lining of the mouth, esophagus, stomach and intestines, leading to more serious health problems.
Several forms of EB exist, ranging in severity from mild to lethal. Three types have been classified:
- Epidermolysis bullosa simplex: The mildest and most common form, it causes blisters at the site of rubbing, typically affecting hands and feet and is in an inherited autosomal dominant manner. It affects keratin genes KRT5 and KRT14 (a top layer in the skin).
- Junctional epidermolysis bullosa: Appearing at birth and generally more severe than EB simplex, it presents with blisters at the site of friction. This type affects laminin and collagen.
- Dystrophic epidermolysis bullosa: DEB can be mild to severe, and it affects the skin and other organs. The aforementioned "butterfly children" refers to those affected with this type of EB, whose skin is extremely fragile. In addition to pain associated with the skin problems, DEB sufferers may experience esophageal and throat problems, which can lead to nutrition deficiency, among other more serious problems. Dystrophic epidermolysis bullosa is caused by genetic mutations that affect the production of collagen.
A fourth type, epidermolysis bullosa acquisita, is a rare form of EB that is not inherited.
Challenges, treatment and support
One of the greatest challenges of managing EB is that it causes significant and constant discomfort and/or pain for the sufferer while essentially monopolizing the time and focus of the family or caretaker(s). Frustratingly, there is only treatment – no cure. Therapies are palliative – keeping the patient as comfortable as possible. The treatment does not reduce the severity of the disease. New strategies are developed to manage EB – and for individuals and families affected by EB, a strong support network helps. In the meantime, medical science is conducting studies1,2 that focus on stem cell and gene research and bone marrow transplantation as possible future cures.
To learn more about epidermolysis bullosa and its treatment, visit the DEBRA International homepage (external link, opens in a new window). DEBRA International is a worldwide network of national groups working on behalf of those affected by the genetic skin blistering condition EB.
- http://dermatology.stanford.edu/gsdc/eb_clinic/trials/eb-gene.html (external link, opens in a new window)
- http://bmt.umn.edu/epidermolysis-bullosa (external link, opens in a new window)