A seven year old boy with a rare genetic disease called junctional epidermolysis bullosa received the most extensive skin transplant yet to treat his condition.
A child in Germany who has a genetic disease that leaves his skin extremely fragile has been given genetically modified skin.
He was admitted to the Ruhr University Children's Hospital in Bochum, Germany "because he had developed an infection in which he rapidly lost almost two-thirds of body surface area" of the outer skin layer called the epidermis, said Tobias Rothoeft of the hospital's burn unit. Ten days later, the new skin was already beginning to grow, De Luca said. However, the disease can have many manifestations, as there are many mutations which might cause it. After trying everything they knew, they concluded the child would die. He was in a lot of pain, and doctors "had a lot of trouble keeping this kid alive", Tobias Rothoeft, a doctor at the hospital, said in a press briefing.
Details of the case were published Wednesday in the journal Nature.
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"[It] establishes a landmark in the field of stem cell therapy", Elaine Fuchs, a skin scientist at the Rockefeller University who also did not participate in the research, writes in an email to The Scientist.
As a final attempt, the doctors contacted Michele de Luca, director of the Center for Regenerative Medicine at the University of Modena and Reggio Emilia in Italy.de Luca had previously done a similar skin graft on legs, but nothing of this scale.
"He promised us he could give us enough skin to heal this kid", said Rothoeft.
To put in simple terms the therapy meant that a piece of his damaged skin was taken to the laboratory.
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De Luca and a team took skin cells from an unaffected part of the boy's body, fixed the mutated gene, and used the corrected cells to grow skin in culture. A third, smaller operation in January of 2016 filled in most of the remaining gaps. Doctors could only try to ease his suffering as some 80% of his skin simply fell away. Just eight months later, he walked out of the intensive care unit with a completely healthy, self-renewing, and stretchable epidermis.
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 fantastic, 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. The cause was a mutation in the gene encoding laminin b3-an extracellular matrix protein that controls, among other things, the anchoring of epidermal cells. 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. In the end, the researchers could confirm the effectiveness of the technique. De Luca said the boy will be monitored closely for skin cancer and other potential issues.
The boy still has some blisters in non-transplanted areas - affecting about two or three percent of his body surface area.
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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.
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