Their skin is so fragile that it “peels off at the slightest friction and forms bubbles. These give way to raw wounds that struggle to heal and recur constantly”. This is how the Debra Association describes the “butterfly children”, with skin as delicate as the wings of the insect, because they suffer from epidermolysis bullosa. Nearly 3,000 people are affected in France, and about 500,000 worldwide.
Recently, the Instagram account The Body Optimist, relayed the testimony of Ariana, followed by more than 19,000 people on the platform. The young woman tells in images, in texts, in videos, her daily life with her particular health condition, namely this skin disease that is bullous epidermolysis.
What are the symptoms of epidermolysis bullosa (called EB)?
As Ariana testifies, and as the MSD manual explainsthe symptoms of epidermolysis bullosa are caused by develop painful blisters, which lead to skin lesions, which can become infected. “Mucosal involvement can lead to malnutrition, stunted growth, breathing difficulties and genitourinary disorders,” the manual states. “The simple act of eating can cause injuries in the body”, underlines the Debra association in an awareness video.
Mild cases mainly affect the hands, feet, elbows and knees, with potential nail abnormalities. But there are also serious subtypes, which can affect the oral and gastrointestinal sphere. The whole body can be affected by the development of bubbles, including the face, because of a simple friction of clothing for example. In some cases, the extremities (highly exposed) atrophy over healing.
What are the causes and forms of epidermolysis?
There are 20 cases of epidermolysis per million births. There is no preferred age or gender. Sometimes, “epidermolysis bullosa is not recognized until adolescence or early adulthood,” the MSD manual explains. It includes four genetic diseases with different subtypes, more or less serious. Different levels of the skin can be affected. Subtypes include: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome. All forms are due to various genetic mutations and production of autoantibodies.
In terms of prognosis, some subtypes can be fatal before the age of two, due to infection, dehydration or malnutrition. In the event that the mucous membranes and the gastrointestinal sphere are affected, it becomes more difficult to feed. That said, the MSD manual states that the course of this disease varies, but also that bubbles decrease as you get older.
How is she diagnosed?
Epidermolysis bullosa is diagnosed through its symptoms first, then confirmed through a skin biopsy with immunofluorescence or transmission electron microscopy and gene analysis.
How is epidermolysis treated?
There is no cure, there is only a symptomatic approach. Sufferers should avoid rubbing and trauma to the skin, wounds are treated to heal faster, “bullae should be properly incised and dressed, as instructed by a wound specialist, to prevent further injury and skin infection”. The Debra Association believes that the disease requires daily skin care of about 2 hours.
It also specifies that the pathology has a strong impact on the psychological state and on the social life of the patients. Multidisciplinary care is often necessary, “with medical skills (dermatologist, psychiatrist, dentist, gastroenterologist, ophthalmologist, ENT, stomatologist, geneticist, etc.) and paramedical skills (psychologist, dietician, nurse, physiotherapist, occupational therapist, social educational…)”, explains the association.
Sources: Debra, MSD Manual, Instagram
