Nov 09, 2017 09:09 AM EST By Dianne Depra

Gene Therapy Gives 'Butterfly Boy' Replacement Skin

Epidermolysis bullosa may no longer be incurable. A stem cell skin graft has given a 'butterfly child' a new lease in life after effectively negating the effects of the genetic skin disease.

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A medical team from Italy's University of Modena's Center for Regenerative Medicine and the burn unit at Ruhr-Universität Bochum successfully transplanted genetically modified stem cells to treat a boy who was suffering from extensive skin damage.

Seven-year-old Hassan has epidermolysis bullosa. No thanks to the genetic skin disease, about 80 percent of his epidermis had already been destroyed, with established treatments failing to give the child relief. Because known therapies were not able to help in managing Hassan's condition, it was then that the medical team decided to give an experimental approach a shot: transplanting skin developed from genetically modified stem cells over wound surfaces.

The results of the trial was documented in a report published in the journal Nature.

What Is Epidermolysis Bullosa?

Currently deemed incurable, epidermolysis bullosa is a congenital skin disease characterized by a defect in the genes responsible for forming proteins necessary to skin regeneration. This makes the skin highly sensitive, with the slightest stress resulting in skin loss, wounds, and blisters with scars forming. This is why boys and girls with the condition are called "butterfly children" - their skin is as fragile as the wings of a butterfly.

Depending on how severe the disease is, it can also affect internal organs and bring about critical dysfunctions. Because of this, the disease dramatically reduces quality of life for patients.

When Hassan was brought to the pediatric intensive care unit in 2015, he had already lost 60 percent of his epidermis, suffering from severe sepsis and high fever, with his weight down to about 37.48 pounds.

The Birth Of A Breakthrough

The medical team obtained stem cells from Hassan, transferring an intact gene into the sample. During the process, retroviral vectors were used to support the gene transfer. Genetically modified stem cells were then cultivated and converted into transgenic transplants. After receiving the necessary authorizations and acquiring the right facilities, the medical team went ahead with the transplant, using 10.19 square feet of transgenic epidermis to cover 80 percent of Hassan's body surface.

The boy was discharged in February 2016 after showing great improvement, forming new epidermis in transplanted areas without further complications. Today, nearly two years since he got the transplant, Hassan has stress-resistant skin and is back to attending school and taking part in social activities with his family.

"Transplanting 80 percent of the skin and providing intensive medical care to the patient over a period of eight months was extremely challenging," said the members of the medical team. However, it was close collaboration between the organizations that made the breakthrough possible, and for that they are proud.

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