Scientists have combined stem cells and gene therapy to replace 80% of his skin.

When a rare genetic condition (epidermis bullosa or butterfly skin) destroyed nearly 80% of a 7-year-old boy’s skin, doctors were sure he would die. However, an experimental gene therapy treatment has saved his life.


Epidermolysis bullosa is a genetic disease that holds together the two layers of the skin, the dermis and the epidermis, transforming the skin into an excessively fragile tissue that even rubbing against a tissue causes blisters and wounds.
into an excessively fragile tissue that even the rubbing of a tissue causes blisters and wounds.


There is currently no cure for butterfly skin or crystal skin. And here is the story of how an experimental gene therapy saved the life of a little boy, giving hope to the hundreds of thousands of families affected by this disease around the world.


“The child was transferred to another hospital in the summer of 2015 because he had developed an infection from which he rapidly lost almost two-thirds of his body surface area. When he was admitted to our burn center, he was in a septic state, so we had a lot of trouble in the first few days keeping him alive,” co-author Tobias Rothoeft told the journal Nature.


The treatment was performed two years ago and the child is still free of the disease.


After trying several different treatments, including a skin graft from the boy’s father, the medical team was left with few options.“After almost 2 months, we were absolutely certain that we couldn’t [hacer] anything for this child and that he would die,” says Rothoeft. The boy’s parents asked if anything else could be done.

A crucial moment

While Rothoeft and his team were doing everything possible to keep the boy alive, scientist Michele De Luca, professor of biochemistry and director of the Center for Regenerative Medicine “Stefano Ferrari” at the University of Modena and Reggio Emilia (Italy) began testing stem cells in his laboratory. Experimental therapy began.


Scientists had to correct the genetic mutation that causes epidermolysis bullosa and had never before tried to repair so much tissue at once. Finally, they made a new dermis from their own skin cells, from one of the few areas of the child’s body that were still intact.


By the time the boy went in for his first operation, he had lost almost 80% of his skin.. They applied the genetically modified skin grafts to his arms and legs and kept him in an artificial coma for 12 days. to keep the grafts immobile and allow the cells to adhere. The procedure was successful and the patient showed the first signs of improvement.


Doctors performed a second and third operation to cover her back, buttocks and parts of her shoulders, hands and chest with new genetically modified skin grafts.


After spending almost 8 months in the intensive care unit, the boy was able to return home. And not only that. His improvement has been remarkable. After 21 months, the child is doing quite well. “The skin is of good quality, perfectly smooth and quite stable. If he has bruises like other toddlers, they heal when the normal skin heals. He still has some blisters in non-transplanted areas, but he has never again had blisters in areas that have already been treated,” Rothoeft explains.


This young patient has not only saved his life but his quality of life has improved significantly. He lives a normal life and plays soccer with his brothers and friends.


“The change goes from being on morphine all day to no drugs at all right now,” Rothoeft says. Although it has not been possible to cure the disease -since this pathology affects all the cells of the organism-, something historic has been achieved: the regeneration of the whole area damaged by such a cruel disease.


A breakthrough for gene therapy

For the field of gene therapy, this is clearly a success story. What the team was also able to demonstrate with this work is that only a small number of stem cells are needed to regenerate the skin and gives hope for the many patients – nearly 500,000 people worldwide – who suffer from butterfly skin.


Reference: Regeneration of the entire human epidermis using transgenic stem cells. Tobias Hirsch, Tobias Rothoeft. Nature (2017) DOI: doi:10.1038/nature24487