A 9-year-old boy in Europe was on the brink of death from his rare skin disease, but a last-ditch effort by doctors to replace 80% of his skin with genetically engineered skin tissue saved his life, according to a study in Nature.
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According to the New York Times, the boy, Hassan, suffers from epidermolysis bullosa, a rare disease that affects around 500,000 people worldwide. Individuals with epidermolysis bullosa have a flawed gene that blocks the epidermis from binding to the inner layer of the skin, leading to the formation of blisters. The disease does not have a cure, STAT News reports, and it's often fatal for children.
In the case study, the boy was hospitals at Children's Hospital in Germany in 2015, when he was seven years old, after blisters and sores had ruined 60 percent of his epidermis. At the hospital, doctors tried everything they could, including careful bandaging and even a skin graft donated by the child's father, but nothing was successful. The boy was given constant morphine to manage his pain.
One of the child's providers, Tobias Rothoeft, a burn unit surgeon at Ruhr University in Germany, said, "After nearly two months, we were absolutely sure there was nothing we could do for this kid and that he would die."
A last-ditch effort
The medical team looked over the medical research in one last effort to find a new treatment, which ultimately led them to the University of Modena and Reggio Emilia's Michele de Luca. De Luca had been working on genetically engineering skin cells to repair the damage caused by epidermolysis bullosa.
The boy's medical team gave de Luca's team a small sample of the boy's healthy skin. Over the course of five months, the researchers genetically modified and cloned the skin cells, using a virus to insert the normal form of his mutated gene, LAMB3, into his DNA. And since stem cells can multiply indefinitely, the team was able to grow multiple sheets of new skin to send back to the hospital in Germany.
Over multiple surgeries, the physicians grafted the new skin over 80% of the child's body. "In the first [operation], we grafted all four limbs," said De Luca. "In the second operation, we grafted the remaining part of the body, mainly the back."
According to STAT News, this sort of transplant had been done only twice before, and never on such an extensive portion of the body.
Once the bandages were removed, De Luca said, "It was spectacular. It was great. We removed the gauze and saw the epidermis underneath. Everybody was pretty happy. We got the feeling that the body of the kid was recovering, was responding. That was the time where we thought, maybe we can make it."
Overall, the child was hospitalized for almost eight months, including four months in a medically induced coma to spare him from pain. Now, more than two years later, the boy's skin can heal normally from routine bumps, bruises, and blisters, and—unlike burn victims, whose skin transplants are not genetically modified—the boy has regrown hair on his skin and will not need any ointments. "The kid is doing quite well," Rothoeft said. "The skin is of good quality. … It's perfectly smooth and it is quite stable."
According to NPR's "Shots," the procedure is not without concerns. Since the gene modification involves the use of a virus, it may increase the risk of cancer. However, while De Luca acknowledged that such a risk is "a potential problem," the benefits of treating the child far outweighed the risk. Moreover, he said he did not spot any concerning cells in the several hundred million he cultivated during the process.
In addition to an increased risk of cancer, the child will also remain susceptible to infections, lesions, and ulcers inside his mouth and in other internal tissue, where skin grafts were not possible. However, according to De Luca, the lesions the boy could develop are far more manageable than those on the outside of his body.
Ramifications for care
The researchers added that despite the success of the boy's individual care, the procedure would likely be "unthinkable" for the majority of patients with the disease or similar illnesfses. However, they said that it might be a possibility for patients who begin treatment at a younger age than the child, getting "progressive replacement" of affected skin via less invasive surgeries. According to the researchers, "This approach would be optimal for newly diagnosed patients early in their childhood."
Further, the researchers said the treatment could generate new insights into how skin can repair itself, which could have potential repercussions on care for a broader slate of patients, including those with burns or chemical injuries.
Angela Christiano—a professor of dermatology at Columbia University, who was not involved in the case, said, "In a broader sense, for any epithelial tissue, [the study] gives us a window into the cell behavior and how these cells behave after injury. … It suggests things we can do to take advantage of that knowledge for wound healing."
John Wagner, director of the University of Minnesota Masonic Children's Hospital, said the findings are "extraordinary," because the researchers demonstrated that stem cell transplants can work using cells other than those found in blood and bone marrow. "They've proven that a stem cell is engraftable," he said. "In humans, what we have to demonstrate is that a parent cell is able to reproduce or self-renew and differentiate into certain cell populations for that particular organ. This is the first indication that there's another stem cell population (beyond hematopoietic stem cells) that's able to do that" (Healy, Los Angeles Times, 11/8; Harris, "Shots," NPR, 11/8; Blau, STAT News, 11/8; Grady, "Well," New York Times, 11/8).
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