It is a disease that limits the way of eating, the way of dressing, the way of relating to the rest of the people, mobility… It is the Epidermolysis bullosa or Mariposa skin disease.
Butterfly skin disease is a rare and incurable genetic disease, characterized by the extreme fragility of the skin, as fragile as the wings of a butterfly, generating blisters and wounds that take days, months and years to heal.
Today on the occasion of World Butterfly Skin Daythe NGO of families DEBRA Piel de Mariposa and the Amryt biopharmaceutical company launch the campaign #500mariposas to support and make visible the unmet needs of people with Butterfly Skin, a rare and incurable genetic disease that affects around 500 people in Spain.
The estimated prevalence is 10 people affected per million inhabitants. The Butterfly Skin makes the skin as fragile as the wings of a butterfly, generating blisters and wounds that take weeks, months and even years to heal or that never heal, says Raúl de Lucas. Head of the Pediatric Dermatology Section of Hospital La Paz and head of the Epidermolysis Bullosa CSUR.
We are people. We want to lead a life within our normality as normal as possible
“When a child is born with this disease -de Lucas points out- the ideal would be for there to be health support from the beginning so that the parents do not bear the full burden of the disease”. In addition, he adds, “the coverage of dressings, dressings, medications must be universal.”
Many people with butterfly skin have to go bandaged, with an appearance that is sometimes a bit, let’s say complicated, especially in adolescence and childhood.
so remember Lucia Carrascoaffected by this pathology. «These are things that you have to face from a very early age and your head is often not prepared for all that and sometimes that is what leads to the stage of repression when you are a teenager. Because you have been suffering all this for a long time and holding on. You keep many things that are hurting, comments, questions, looks».
Coverage of dressings, dressings, medicines must be universal
Raúl de Lucas
Peace Hospital
The disease also affects other less visible parts of the body such as the mouth, the digestive tract or the mucous membranes, among others.
Although the associated clinic in patients can be highly variable, in many cases it exceeds the dermatological field, suffering a wide variety of systemic manifestations. Patients with severe forms of EB may develop anemia, syndactyly (fusion of fingers and toes), dysphagia (difficulty swallowing), osteoporosis, muscular dystrophy, kidney failure and cancer, among others.
De Lucas points out that, because the skin is an external organ, “much of the research we carry out is local, using dressings, products and topical treatments. But they are also working on advanced therapies such as stem cells or gene therapy.”
Another important thing, he stresses, is that it is very important that these patients are evaluated in centers like ours. «From the genetic point of view we are going to have a precise diagnosis in 2022 in Spain; all these patients should necessarily have a genetic diagnosis, because a gene codes for a protein, and that protein is responsible”.
De Lucas also calls for more reference units to treat these patients and more economic resources so that these families do not bear the weight of the disease as they bear it.
The hope for Lucía is, even if it is a little-known disease, it is no longer seen as something strange. “We are people. We want to lead a life within our normality as normal as possible.