Miracle gene saves boy with skin eating disease
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A boy, who nearly died when disease stripped skin from most of his body, is playing soccer two years after he received a new, gene-edited hide, in an experimental procedure, doctors who treated him said.
The boy, then seven-years-old, was admitted to hospital in June 2015 with the 鈥渄evastating鈥 effects of a genetic disease called Junctional epidermolysis bullosa (JEB) that has tormented him since birth.
The disease causes the skin to blister and come off at the slightest touch.
Doctors were at a loss. After trying everything they knew, they concluded the child would die.
He was admitted to the Ruhr University Children鈥檚 Hospital in Bochum, Germany 鈥渂ecause he had developed an infection in which he rapidly lost nearly two-thirds of body surface area鈥 of the outer skin layer called the epidermis, said Tobias Rothoeft of the hospital鈥檚 burn unit.
鈥淗e was in a septic state. He was severely dystrophic (wasting away), so we had a lot of problems in the first days keeping this kid alive.鈥
His doctors consulted experts around the world. They tried to promote 鈥渟pontaneous healing鈥 with strong antibiotics, which did not work, then transplanted skin from the boy鈥檚 father, which was rejected.
鈥淎fter nearly two months we were absolutely sure that we could do nothing for this kid and that he would die,鈥 Rothoeft told journalists ahead of the study鈥檚 publication in the journal Nature.
Try 鈥榓nything鈥
As the discussion turned to making the boy鈥檚 last days as comfortable as possible, his parents urged doctors to try 鈥渁nything.鈥
They did exactly that and came across the work of Michele de Luca, a regenerative medicine expert in Modena, Italy.
鈥淗e promised us he could give us enough skin to heal this kid,鈥 said Rothoeft.
De Luca and a team took skin cells from an unaffected part of the boy鈥檚 body, fixed the mutated gene, and used the corrected cells to grow skin in culture.
After permissions were obtained for the compassionate use of an experimental therapy, the skin was grafted onto the boy鈥檚 body in two operations in October and November 2015.
Remaining spots were covered in a later, smaller procedure. About 80 percent of his skin was replaced overall.
The boy was discharged from hospital in February 2016 after nearly eight months in intensive care.
Almost two years on, he is doing well and playing soccer, having gone from being on constant morphine to no drugs at all.
鈥淭he skin is of good quality, it doesn鈥檛 need any ointments or stuff like that, it鈥檚 perfectly smooth and it鈥檚 quite stable,鈥 said Rothoeft.
鈥淚f he gets any bruises like small kids have, they just heal as normal skin heals, like bruises in any other kids do.鈥
The form of JEB the boy suffers from is caused by a mutation in a gene called LAMB3, which prevents the epidermis from anchoring properly to the underlying layer, the dermis.
There is no cure for JEB and more than 40 percent of sufferers die before adolescence.
Those who survive deal with chronic wounds, and often get skin cancer.
The epidermis, tough and water-resistant, protects the body from dehydration, injury and infection.
To the team鈥檚 delight, their lab-grown skin, as in healthy people, contained stem cells crucial for long-term skin regeneration.
鈥淚鈥檇 say that this epidermis will stay basically forever,鈥 De Luca said.
The boy still has some blisters in non-transplanted areas 鈥 affecting about two or three percent of his body surface area.
The technique 鈥渕arks a major step forward鈥 in the field of gene and stem cell therapy, experts Mariaceleste Aragona and Cedric Blanpain wrote in a comment on the study.
It is not known, however, if it would work equally well for different forms of JEB, or in adults.鈥淟onger-term follow-up of the child in the current study and other patients will be needed to ensure that there are no adverse consequences 鈥 for example, the development of skin cancers,鈥 the duo wrote.
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