Transplants of Genetically Altered Skin Treats Boy with Epidermolysis Bullosa, Study Shows

A 7-year-old boy with life-threatening epidermolysis bullosa has German and Italian researchers to thank for acquiring a new skin — and with it, the potential for a normal life. The team used genetically modified skin stem cells to grow new skin, which was successfully transplanted on 80 percent of the boy’s body.

The transplants have now — two years after the surgery — grown into a fully functional, high-quality, and stress-resistant skin, the researchers said.

The team has published their work in the report “Regeneration of the entire human epidermis using transgenic stem cells,” in the journal Nature, marking the first large-scale transplant of genetically altered skin cells.

The boy, named Hassan, was first admitted to the intensive care unit at the Katholisches Klinikum Bochum in Germany. At that time, he had already lost 60 percent of his epidermis — the outermost skin layer affected by epidermolysis bullosa.

“He suffered from severe sepsis [a potentially fatal response to an infection] with high fever, and his body weight had dropped to a mere 17 kilograms — a life-threatening condition,” Tobias Rothoeft, a consultant at the University Children’s Hospital at Katholisches Klinikum Bochum, said in a press release.

When all available treatment options failed, the medical team at Bochum, which included both pediatricians and plastic surgeons, decided to try an experimental treatment — a transplant of genetically engineered lab-grown skin.

After gaining parents’ and authorities’ permission, researchers from the Ruhr-Universität Bochum‘s burn unit began their work, in conjunction with colleagues at the Center for Regenerative Medicine at the University of Modena in Italy.

Using a small skin tissue sample from the boy, they managed to isolate and grow skin stem cells in the laboratory. They then transferred a functional LAMB3 gene into the cells, aiming to replace the faulty gene giving rise to the boy’s condition.

These cells were next grown into skin sheets, which doctors eventually transplanted.

At the time of the procedure, the boy lacked skin on his entire back, large parts of his arms and legs, and parts of his flanks, stomach, neck, and face. In addition, blisters had formed on parts of his remaining skin.

“Overall, 0.94 square meters of transgenic epidermis were transplanted onto the young patient in order to cover all defects, accounting for 80 percent of his entire body surface,” said Tobias Hirsch, an associate professor, head consultant at the department of plastic surgery, and one of the doctors who led the procedure.

The procedure’s large scale has made an impression on researchers and laypeople around the world.

“Transplanting 80 percent of the skin and providing intensive medical care to the patient over a period of eight months was extremely challenging,” said Rothoeft, who led the work together with Hirsh and Michele De Luca from the University of Modena.

Most of the graphs were done to the boy in October and November 2015, and he soon started to improve. The skin became attached and grew back with no extensive scar tissue. He was discharged from the hospital in February 2016.

Today, two years after the work started, the boy can attend school and enjoy a social life.

“This approach has enormous potential for research into and development of new therapies for the treatment of epidermolysis bullosa as well as other diseases and trauma causing large skin defects,” said Hirsch.

“The close collaboration between the departments in Bochum and the University of Modena’s expertise has been the key to success. This makes us very proud,” Rothoeft and Hirsch concluded.