Surgeons in Germany sent a skin biopsy to Modena, and two major skin transplants followed. He quickly lost about 60 percent of the outer layer of his skin and was put into an induced coma to spare him further suffering. All children can run around and play, why am I not allowed to play soccer? He has a disease called junctional epidermolysis bullosa, caused by a mutation of the LAMB3 gene, which produces the protein that makes the top layer of skin connect to deeper layers underneath. The result is skin that readily blisters, causing large, chronic wounds and enormous pain to the patient.
"We were forced to do something dramatic because this kid was dying", said Dr. Michele De Luca of the University of Modena in Italy, who got a call for help from the German doctors treating the boy. 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.
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.
We initially made a decision to provide palliative care because we had no chance to save the life of this child.
De Luca had previously performed two proof-of-principle transgenic cell therapies on patients with epidermolysis bullosa, both of which had been limited to small patches of replacement epidermis-nothing close to the scale the seven-year-old would require. Holoclar, a treatment that replaces the eye's cornea in a form of blindness, became the world's first commercial stem-cell therapy in 2015.
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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.
After scouring medical literature, Dr. Rothoeft and his team uncovered an article detailing a highly experimental procedure that genetically alters skin cells.
In the weeks that followed the operations, the transplanted cells proliferated to close the wounds. They then attached the new skin to the affected areas of the child's body. In the end, the researchers could confirm the effectiveness of the technique.
The boy's experience revealed novel insights into the way keratinocytes regenerate.
If you regularly read science news, you might think that scientists are obsessed with stem cells.
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It is not known, however, if it would work equally well for different forms of JEB, or in adults. As it was, they contained only a few hundred, strongly supporting the latter theory. Still, he said the approach was worth trying in dying patients.
Can skin cell therapy reduce cancer risk?Futhermore, should a cancerous event occur, he says, "this would be easily identified because it is in the skin".
A child who was expected to die from a devastating skin disease is alive today thanks to an experimental treatment that grew him a whole new skin.
There is no cure for the condition, and one in four patients don't even make it to adolescence.
While the boy will receive regular checkups to assess for any problems, as of now, "he's back to school, he's exercising, he's started to play soccer.it's quite fantastic", De Luca says.
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