Adrián Soto, First Person from Malaga with Butterfly Skin to Receive Gene Therapy in Spain

When Adrián Soto was born 22 years ago, Virginia Cortés realized that as soon as she started touching him, "lesions began to form" on his skin. After being born by cesarean section, he was taken to the nursery and isolated. "After ten days, we decided to bring him home because we preferred to be with him, and well, we started to bandage and heal wounds," she tells SUR. Her son suffers from a rare genetic disease called epidermolysis bullosa, known as butterfly skin. In his case, it is the most severe variant, the dystrophic type. In mid-March, the Junta de Andalucía announced that it would fund the administration of an ambitious drug called Vyjuvek, which will bring great benefits to the 45 Andalusian patients affected by the most severe subtype of the disease. Adrián will be the first person from Málaga to receive it and will almost certainly also become a pioneer in Spain, because his case is precisely what has led the Ministry of Health, Presidency, and Emergencies to agree to fund it.

They have not yet started receiving the treatment, says Virginia Cortés. "Right now, training is being conducted for healthcare professionals, because they need to be trained in handling, preparation, and application. It will be very soon, but the days feel like years," she acknowledges.

They are neighbors in Tolox, but their case has always been treated at the Costa del Sol Hospital in Marbella: "They are the ones who opened the door for Vyjuvek to arrive in Spain and to be dispensed in the public health system. They are the first ones who have been following all the scientific evidence and publications as they came out. In fact, the dermatologists and the whole team kept telling us: 'This looks promising, it's fantastic, we have to get it,'" she says.

22 years of struggle

"We have been struggling for 22 years, with treatments, with many surgeries, because Adrián has undergone multiple surgeries on his hands to prevent his fingers from becoming stumps, from fusing together. He has also had surgeries on his corneas, because the wounds leave him blind. The same eyelashes, when they rub against the cornea, cause him an incredible wound and ulcer. He also has severe swallowing difficulties, he cannot eat anything, only very clear liquids and in small sips. He has lesions on the heart valves and on the kidney. It's a very tough disease and we have managed it as best as we can," Virginia sincerely adds, "This disease is too devastating and cruel: you have wounds and more wounds that you never forget, because for everyone else, wounds heal and you forget, but not us: they will open again for sure, because the skin has memory."

"This disease is too devastating and cruel: you have wounds and more wounds that you never forget," explains Virginia Cortés, mother of the patient, to SUR

The problem is that they open more and more frequently, "until there comes a time when it is impossible to close them and they can become malignant and turn into tumors. These children usually die after a terrible battle against this disease that has left them disabled, with more sequelae, some end up mutilated, with amputations, sepsis, carcinomas," she emphasizes.

"A miracle"

Therefore, the arrival of the new treatment has been for them "the miracle she had been asking for since her son was born." In Málaga, there are a dozen affected by the dystrophic variant of butterfly skin disease. "This is the variant that damages all layers of the skin, from the most superficial to the hypodermis, to the dermis, to all the inner layers, even to the organs and all the mucous membranes: it is the most severe. They have a deficiency of a protein that anchors the skin layers to each other, collagen VII. They suffer from a genetic mutation," says Virginia Cortés.

Vyjuvek is a topical gene therapy that introduces a functional copy of the gene responsible for collagen VII, the protein that anchors the layers of the skin together. Its weekly application helps to progressively close the chronic wounds characteristic of this disease. Now, the mother says, there are some wounds "we close at night and by morning they are open, they last hours. It's a miracle, a wonderful achievement of science and we hope that it continues to be refined and opens the door to more drugs."

The Costa del Sol Hospital, a reference center in the follow-up of these patients, and Adrián Soto himself, "have set a precedent," says Virginia Cortés

The Costa del Sol Hospital, a reference center in the follow-up of these patients, and Adrián Soto "have set a precedent." The mother assures that Adrián will be the first to receive the treatment in Málaga and in Spain, "he has already been granted it since February." Until now, she says, "there were no treatments, only palliative care, infection control, and wound care."

The mother criticizes that the medication is still not included in the common portfolio of the National Health System, which requires processing each case individually through authorizations from the Spanish Agency for Medicines and subsequent funding by the autonomous communities.

The struggle

Their struggle began in 2023, once its dispensation was approved in the United States. In Europe, it was approved in early 2025. "It started in Germany, France, Italy, Moldova, Norway, and here, seeing that it was not arriving, we started to mobilize: we wrote letters to the king, to the minister, to Juanma Moreno, to the Ministry of Health, to the Spanish Agency for Medicines, we have met with all the parties," she clarifies.

Today, Adrián is a young man with hope to mitigate the effects of the harshest variant of butterfly skin disease. He studies a double degree in Teaching at the University of Málaga, although it is difficult for him to follow the classes due to the treatments, says his mother. For now, his struggle has paved the way to inflict the first defeat on butterfly skin disease.