6 Facts About Epidermolysis Bullosa – ‘The Worst Disease You’ve Never Heard Of’


Tomorrow, October 31, marks the end of International Epidermolysis Bullosa Awareness Week. Epidermolysis Bullosa, called EB, has been dubbed ‘the worst disease you’ve never heard of’ because it is an extremely rare condition. Children with the condition are often called ‘butterfly children’ or said to have ‘butterfly skin’ due to the extremely fragile nature of their skin. Here are some facts about the disease:

  1. According to National Institute of Arthritis and Musculoskeletal and Skin Diseases, EB is an illness that causes the skin to be extremely fragile. The skin can be easily injured, causing painful blisters to form. Some people have a mild form of the disease with few blisters, but those with severe cases also develop internal blisters, affecting the mouth, stomach, esophagus, bladder, and elsewhere.
  2. According to eb-awareness.org, “It is estimated that 2 to 4 out of every 100,000 people, or up to 12,000 people in the United States, have some form of EB. It occurs in all racial and ethnic groups and affects males and females equally. The disease is not always evident at birth. Milder cases of EB may become apparent when a child crawls, walks, or runs, or when a young adult engages in vigorous physical activity.”
  3. Most cases of EB are hereditary. eb-awareness.org states that there are more than 10 genes known to underlie the different forms of EB.
  4. There are three main types of EB. However, according to the National Health Service UK, researchers have found many variants of these types, each with slightly different symptoms. So far, they have classified 27 variants of the condition and more may be identified in the future. The main three are:
    • Epidermolysis bullosa simplex (EBS), where blistering occurs in the upper layer of the skin (the epidermis). This is the most common type of EB, accounting for 70 per cent of cases, and tends to be mildest form.
    • Dystrophic epidermolysis bullosa (DEB),where blistering occurs below the basement membrane zone in the upper part of the dermis. DEB accounts for around 25 per cent of cases.
    • Junctional epidermolysis bullosa (JEB), where blistering occurs at the junction between the epidermis and the dermis (lower layer of the skin) in a layer of skin known as the basement membrane zone. JEB accounts for around 5 per cent of cases and is usually considered the most severe type of EB.
  5. There is currently no cure for EB. Pain-relieving care is the current treatment for EB. This involves topical treatments, bandaging with special bandages or vaseline gauze, and general wound care.
  6. EB can be deadly. The Mayo Clinic notes that infants with a severe junctional epidermolysis bullosa are at high risk of infections and loss of body fluids due to widespread blistering. This can affect their ability to eat and breathe, so many die in childhood. eb-awareness.org notes, “statistics indicate that, on average, only nine people out of 20 born with EB are living today.”

Locally, there is only one currently known case of EB – baby Marley Case. You can read more about his story at this Facebook page run by his mother, Shauna-Gay Mitchell. Another Jamaican born with the condition, Novelette Munroe, now lives in Canada. Read her story here.