In this photo taken on October 18, 2017, doctors lift up a sheet of skin in a lab at St Josef-Hospital in Bochum, Germany.
Epidermolysis bullosa is a genetic disease in which mutated connective proteins prevent the epidermal layer of the skin from attaching properly to the underlying dermis. However, the disease can have many manifestations, as there are many mutations which might cause it.
It may have been a scene straight out of a movie or television drama - one where only a miracle could save a child, yet doctors continue to see what they could do to save a life.
The 7-year-old fled with his family from Syria to Germany in 2013, and by the time he started to receive treatment at University Children's Hospital, Ruhr University Bochum, he had lost 80 percent of his skin.
His doctors consulted experts around the world. Also, it was a premiere in terms of skin transplant as well.
Details of the case were published Wednesday in the journal Nature.
As the discussion turned to making the boy's last days as comfortable as possible, his parents urged doctors to try "anything".
The experimental gene therapy treatment was developed by Michele De Luca at the Center for Regenerative Medicine at the University of Modena and Reggio Emilia in Modena, Italy.
"He promised us he could give us enough skin to heal this kid", said Rothoeft. They grew sheets of the boy's skin, in much the same way skin grafts are grown for burn victims. The skin was finally grafted back onto the kid's body. A third, smaller operation in January of 2016 filled in most of the remaining gaps. It took an eight-month stay in the hospital, with four months in an induced coma to avoid pain, for the boy to recover.
Nearly two years on, he is doing well and playing football, having gone from being on constant morphine to no drugs at all. What's wonderful, said the boy's surgeons, is that his skin doesn't even need to be treated with any special creams or ointments, which are a daily requirement for most burn grafts. They had previously used gene therapy to produce a small piece of skin in a similar case.
The boy was born with a mutation in genes that control the growth and replacement of the outermost layer of skin. JEB is incurable and only around 40 percent of the sufferers reach adolescence according to studies.
The epidermis, tough and water-resistant, protects the body from dehydration, injury and infection.
"The work provides in-depth, novel information on skin stem cells and demonstrates the great potential of these cells for treating a devastating disorder", says Allessandro Aiuti, a professor of pediatrics at the San Raffaele Scientific Institute in Italy who was not involved in the study.
"I'd say that this epidermis will stay basically forever", De Luca said. They then attached the new skin to the affected areas of the child's body.
An additional discovery from the boy's experimental procedure related to the role of stem cells and progenitor cells (cells that are more specialized than "blank-slate" stem cells) in the ongoing regeneration of epidermal tissue.
If the former situation were true, the authors argue, then genomic sequencing of the boy's skin biopsies would have revealed that each contained thousands of different genotypes-the result of random integrations of the viral vector into each cell.