Have you found yourself lying on a bed with a runny nose and blistering headache, thinking this is the worst disease ever? I have and believe me when I say you this, I hate flu and the common cold. But who doesn’t, right? While talking about the worst diseases, I came across this long list of articles that covered the world’s worst and deadliest diseases. Diseases like stroke, lung cancer, diabetes, high blood pressure, Alzheimer‘s topped the chart but this one disease, a rare genetic disorder, called Epidermolysis Bullosa caught my eye.
Also termed as “butterfly skin”, Epidermolysis Bullosa affects children and newborn causing their skin to tear off like a tissue paper, covered with blisters. The haunting graphic images of the disease brought chills to my spine but I kept on researching more about it. Later I came to know some of the interesting and shocking facts about it. But before I go there, let’s first find out what is Epidermolysis Bullosa and how does it occur?
Epidermolysis Bullosa is a rare genetic connective tissue disorder characterized by the formation of blisters on the skin in response to mechanical trauma. It may occur anywhere on the body but it commonly appears at sites of friction and minor trauma. This disorder occurs at the time of birth and the severity of the disease ranges from mild to lethal causing squamous cell skin cancer, esophageal narrowing, internal blisters, need for amputations and so on.
This disease is more than one which means it is a group of disorders that have been classified on the basis of mutation. So far, they have classified 27 variants of the condition but the major types include:
- Epidermolysis bullosa simplex which causes blisters at the site of rubbing, typically seen on hands and feet. It accounts for about 70% of all the most cases.
- Junctional Epidermolysis bullosa which is inherited, affecting collagen and laminin. It occurs within the basement membrane and accounts for about only 5 percent of the EB cases.
- Epidermolysis bullosa acquisita which is a chronic subepidermal blistering disease.
- Dystrophic epidermolysis bullosa which accounts for about 25 percent of all the cases, is an inherited type affecting skin and other organs.
Epidermolysis bullosa Causes
The main cause of EB is mutation. The mutation occurs in at least one of 18 different genes associated with skin. Some are autosomal dominant while other mutations are autosomal recessive. When a defect occurs in attachment between or within the layers of the skin, epidermolysis bullosa occurs. In people with EB, the two layers lack the anchoring protein resulting in the extremely fragile skin. Also, heredity plays a vital role in transferring this disease from one generation to the next.
The condition was brought to public attention in 2004 in the United Kingdom through the Channel 4 documentary The Boy Whose Skin Fell Off depicting the real-life story of Jonny Kennedy, an Englishman who suffered the same issue.
Epidermolysis bullosa Symptoms
The signs and symptoms of this disorder vary depending on the type. However, some of the common signs detected in almost every type of the epidermolysis bullosa are listed below:
- Fragile skin that blisters easily
- Thickening of nails
- Blisters inside mouth and throat
- Thickening of skin on the palms and soles of the feet
- Thin appearing skin
- Tiny white skin bumps or pimples
- Tooth decay
- Difficulty in swallowing
- Itchy and painful skin
Epidermolysis Bullosa Life Expectancy And Epidemiology
As EB is a rare condition, only 20 out of million live births have been diagnosed with EB and the recent study showed that about 9 in every million people is actually living with the condition. Since its also an inherited disease, the carrier frequency ranges from 1 to much higher in 400 cases. It is not demographical which means it can affect any race and ethnic group of both sexes. This makes it clear that EB is a fatal disease and the life expectancy of people suffering from this disease is generally very low. However, the life expectancy of the disease varies according to its type.
The infants suffering from epidermolysis bullosa simplex are at the risk of sudden death under severe condition but in some cases, it improves with age. On contrary, children suffering from dystrophic epidermolysis bullosa have a normal life expectancy but they are at the risk of developing certain complications like blistering and scarring in the long run.
Those suffering from Junctional epidermolysis bullosa have a very poor life expectancy as almost half of the population suffering from JEB do not survive past the first year of life and those who survive, die before they are 5 years old.
Epidermolysis bullosa Treatment and Management
Unfortunately, there’s no ultimate cure for Epidermolysis bullosa. The treatment is done to manage the painful symptoms using topical treatments, bandaging the blisters, wound care and vaseline gauze. The care is similar to that of care given to a burnt patient in a burn center. The injuries can be prevented by preventing mechanical trauma and erosions. Nevertheless, attempts to produce the defective proteins by bone marrow transplantation, local fibroblast transplantation, or the addition of stem cells to the patients have been done as treatment measures but only with limited success. A pilot study performed in 2015 suggests that systemic granulocyte-colony stimulating factor (G-CSF) may promote increased wound healing in patients with dystrophic epidermolysis bullosa, but it has yet to be validated by the health authorizations.
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