TO bringing attention to this rare disease was also the story of the son of the Spanish actor Sergio Muniz. “My son is a ‘butterfly child’, he has a very rare disease”. This is how Sergio Muniz publicly described his son’s diagnosis, bringing attention to a little-known but complex pathology likeepidermolysis bullosa. A story that has made visible a little-known but complex condition, which often begins from birth and accompanies those affected throughout their lives.
When it all starts with a seemingly harmless sign
The story, as often happens, begins with something minimal. A small bubble on the baby’s finger. Nothing that suggested a rare disease. The explanation received in the hospital also seemed plausible: “They told us she sucked her thumb in the womb,” explains the actor.
But that bubble doesn’t disappear. And, as the days go by, others appear. Between checks and hospitalizations – also slowed down by the pandemic – the picture becomes complicated, until the diagnosis, which arrived six months later: epidermolysis bullosa, the so-called “butterfly children” syndrome. A rare genetic disease which, as also reported by Corriere della Seraaffects approximately one child in every 82,000 births (in some international estimates up to 1 in 17,000), but which in the dystrophic form developed by Muniz’s son is even rarer, with very few cases in the world. Faced with a diagnosis like this, the reaction is inevitable: “When a child is born, you don’t expect something like this and the first impact is a shock, but then you react, because you realize that he is there and needs you”the actor and model told the show People – Change your point of view.
Fragile skin from birth
THE’epidermolysis bullosa it’s a group of genetic skin diseases characterized by one extreme fragility of the skin and mucous membranes.
Lesions appear even following minimal trauma: rubbing, contact, even simple movement. The reason is a defect in the proteins that hold the layers of skin together. When these proteins are absent or function poorly, the skin loses cohesion and blisters and wounds form. As the specialists explainBambino Gesù Pediatric Hospitalthe first signs often appear at birth or in the first weeks of lifeinvolving not only the skin but also the oral cavity and, in the most severe forms, other organs.
Many forms, the same fragility
There is not just one epidermolysis bullosa, but a set of different conditions. As explained by MSD Manualthe forms can vary from milder manifestations, limited to the appearance of blisters localized especially on the extremities, up to more complex and serious conditions, which also involve other organs.
In the more severe forms, in fact, complications may appear affecting the digestive, respiratory or muscular systems. It’s exactly this great clinical variability to make epidermolysis bullosa difficult to manage and require personalized care pathsbuilt on the specific characteristics of each patient.
Treatments: today mostly symptomatic
To date, there is no definitive therapy for epidermolysis bullosa. Treatment remains predominantly symptomatic and is based on one very careful daily management of skin lesionswith advanced non-adherent dressings, use of disinfectants and, when necessary, antibiotics to prevent or treat infections. As remembered by theHigher Institute of Healththe complexity of the disease requires continuous and specialized assistance, because even simple procedures can be delicate due to the extreme fragility of the skin.
For this reason it is essential that patients are followed in reference centers, where it is possible to guarantee a multidisciplinary approach and adequate management over time.
The reference centersor specialized
The diagnosis of epidermolysis bullosa it is based on a clinical evaluation, supported by histological and genetic tests, and is often confirmed in specialized reference centerslike lDermopathic Institute of the Immacolata (IDI) in Romewhere there is consolidated experience in the management of the disease.
As already underlined, today taking charge remains predominantly symptomaticwith daily attention to wound care. However, in recent years they are developing advanced and experimental therapieswhich open up new perspectives.
Research is very active: realities like the REB ETS Foundation cthey collaborate with clinical centers and scientific institutes to develop new therapeutic strategies, including gene therapy.
Alongside research, a fundamental role is played by support for families. In Italy, the reference point is Debra Italy, association that supports patients in the treatment process and contributes to spreading information and awareness about this rare disease.
The new frontiers of research
In recent years, however, something has been changing. AtBambino Gesù Pediatric Hospital studies are underway on gene therapywhich aims to correct the defect underlying the disease.
Among the most promising innovations are:
- treatments that involve the genetic modification of the patient’s skin cells
- topical gels containing healthy copies of the gene responsible for the disease.
These solutions, still in the study or approval phase, represent an important step towards more effective and targeted therapies.
Sergio Muniz (Photo by Massimo Insabato/Archivio Massimo Insabato/Mondadori Portfolio via Getty Images).
A rare disease that is talked about more today
Epidermolysis bullosa remains a complex, chronic and challenging disease. But stories like the one told by Sergio Muniz help do something fundamental: make it visible. Because behind the fragility of the skin there is a reality made of daily care, research, and above all of families who learn to live with a rare condition, seeking a possible balance every day.