The medical team acknowledged that the kind of aggressive transplantation pulled off here would probably be "unthinkable" for most patients with JEB and other genetic diseases that knock out proteins key to skin's health. After all, doctors covered roughly 80 percent of his body in new skin grafts.
But many young patients, they wrote, could start earlier than this patient did, getting "progressive replacement" of diseased skin in less invasive surgeries, and see their skin regenerate.
"This approach would be optimal for newly diagnosed patients early in their childhood," the report authors wrote.
For a much broader population of patients -- including those with grievous burns, diabetic ulcers and chemical injuries -- the work offers new insights into how the skin can, with help, repair itself.
The virus used in this version of gene therapy proved safe, and the telltale marks it left behind in corrected cells allowed researchers to track precisely where those cells established themselves and what role they played in the patient's recovery.
A newly identified population of stem cells, called holoclones, now lives among the child's genetically corrected skin cells, said Dr. Michele de Luca of the University of Modena and Reggio Emilia's Center for Regenerative Medicine, who led the team's efforts. The activity of those cells over the last two years suggests that they will oversee the production of a continuous supply of healthy new cells to heal this young patient's wounds and replace his sloughed-off skin.
"We think the graft will stay forever," de Luca said. "This is going to be a stable situation."
The young patient will continue to be vulnerable to ulcers, lesions, infections and even cancers of epithelial tissue inside his mouth and other internal body parts, where corrected skin grafts were not possible. But de Luca said many of those lesions are more manageable than are those on the body's exterior.
The report drew praise from researchers and clinicians who work in obscurity to help patients with inherited skin disorders.
"What the whole field is aiming for is, we'd like to get younger and younger patients and replace larger and larger amounts of their skin," said Dr. M. Peter Marinkovich, a Stanford University dermatologist who has used smaller genetically corrected skin grafts to treat a related skin disorder, dystrophic epidermolysis bullosa.