A seven-year-old child who lost nearly all of the outer part of the skin on his body due to a devastating illness, has made a near complete recovery after receiving multiple transplants of a genetically engineered replacement grown in a lab.
The boy, a Syrian refugee living in Germany, suffers from Junctional Epidermolysis Bullosa, or EB - a rare and severe genetic based condition that causes the skin to be incredibly fragile and blister.
Those who suffer from the illness lack collagen, the part of the skin that keeps the outer layer, known as the epidermis, and the inner layer called the dermis, together.
As a result, their skin is hugely susceptible to tearing and to blistering, is extremely sore, and can be easily infected leading to illness and death.
There is no cure for the chronic inherited disease and so patients have to manage it by wrapping their skin in bandages and using special creams.
The child at the centre of this study was admitted to the burns unit of a hospital in Bochum in Germany in summer 2015.
As a result of an infection caused by his EB, he had lost two thirds of his outer skin.
Several different types of aggressive traditional and experimental treatments, including plastic grafts and a skin transplant from his father were tried, but all failed.
"After a few months we were absolutely sure we could do nothing for this kid and that he would die," said Dr Tobias Rothoeft from the University Children's Hospital and Ruhr University in Bochum.
The doctors then consulted with Professor Michele De Luca from the Centre for Regenerative Medicine Stefano Ferrari at the University of Modena and Reggio Emilia in Italy, who suggested trying a radical experimental gene therapy and stem cell based treatment, never previously attempted at this scale.
The treatment involved taking a small piece of skin from a part of the child's body that had not been blistered by the EB.
The researchers then corrected the genes in that piece of skin by infecting the cells with a form of virus that contained a fixed version of a faulty gene that causes EB, known as LAMB3.
The scientists then grew the cells in the lab, producing three forms of skin cells, including those that can develop into multiple different types, known as stem cells.
They then continued the growth until patches of the new skin, measuring a total of nearly a square metre, had been produced.
This was grafted onto the child's body in a number of operations in October and November 2015 and January 2016.
Despite the incredibly invasive surgery, the child made a remarkable recovery.
"He survived and he was discharged in February 2016 and went back to a normal life including school and sports games," said Professor De Luca.
Two years on, the team says the child's clinical parameters are fine, his epidermis is stable and robust and does not blister, itch or require ointment or medication.
The researchers say the child has not been cured and that the radically invasive treatment would only be suitable for particular EB patients with severe forms of the disease.
EB is also caused by a number of different genetic mutations, not all of which will be simple to correct.
However, experts say it does mark a major step forward and does point the way towards new methods of treating this and other related illnesses using a combination of cell and gene therapies developed in the lab.
By tracking the development of the new skin, the study also revealed for the first time that the monthly renewal of a normal epidermis is driven by a small number of long-living stem cells.
"The work published in this paper is really significant," said Dr Lara Cutlar, postdoctoral research fellow at the Charles Institute of Dermatology at UCD.
"It's an accumulation of work done by a huge team, a really multidisciplinary team that had combined over a decade’s worth of research into skin grafts and other treatments for EB."
"The whole EB community is blown away by their results and the fantastic treatment they managed to give this boy".
The development has also been welcomed by Dublin woman Liz Scanlon, whose 14-year-old daughter Claudia has EB.
"I have seen dramatic changes over the last 13 years," she said.
"Do I think the science is going in the right way? Most definitely I do. Do I believe the next generation of children are going to be helped greatly? Yes I do. This is an amazing, an amazing breakthrough."
She added that there is still no cure and people suffering from the illness are nowhere near where they want to be in terms of getting one.
The study was published in the journal Nature.