A boy with a fatal skin disease has been saved by pioneering doctors who created an almost complete new skin for him in the laboratory.
The seven-year-old boy suffered the genetic condition known as ‘butterfly disease’ as his skin is as delicate as the insect – likely to blister and peel off at the slightest touch.
He had lost 80 per cent of his skin and was near death and was in a drug induced coma before he had the groundbreaking experimental surgery.
Doctors grew a new skin in the laboratory – which featured stem cells genetically altered to eliminate the flaw in the gene that causes the disease.
In what has been described as a major breakthrough in the use of stem cells to treat disease, this was then successfully transplanted it on to his body.
Now 21 months later, the boy who had been admitted to a hospital burns unit close to death, appears to be fully recovered.
The seven-year-old, who suffered the genetic condition known as ‘butterfly disease’, was saved by pioneering doctors who created an almost complete new skin for him in the laboratory (pictured: the boy after the treatment)
His new skin no longer blistered, was able to heal normally, and has successfully ‘anchored’ to the body – without blistering or peeling.
He is now able to play football and rough and tumble games with his friends.
Pictures of the boy ‘pinching’ his skin have been released – something which would have been impossible before without pulling the skin off his body.
The inherited disease junctional epidermolysis bullosa (JEB) is the most severe form of a disease which affects around 1 in 17,000 in the UK.
Around 40 per cent of children with JEB will not survive the first year of life, and most will not survive more than five years.
Until now, the disease was considered incurable.
In two operations in November and December 2015, doctors at Bochum University Hospital in Germany used skin created in Italy by Dr Michele De Luca of the University of Modena.
Dr De Luca said: ‘Now the boy is well, he’s going to school and playing football.
Doctors grew a new skin in the laboratory – which featured stem cells genetically altered to eliminate the flaw in the gene that causes the disease (pictured after four months)
He had lost 80 per cent of his skin and was near death and was in a drug induced coma before he had the groundbreaking experimental surgery
‘The boy lives with his parents, sisters and brothers. His skin is stable and has already had several cycles of renewal.
Dr De Luca added ‘the boy, suffering from a serious form of epidermolyosis bullosa, had lost 80 per cent of his skin, he was on the verge of death and in a drug-induced coma’.
To create the new skin, the doctors took a small piece of skin of around half a square inch from an unaffected part of the body, then used gene editing to correct the skin.
They then grew more than 9 sq ft of skin (0.85 sq m) and transplanted it.
Details of the treatment, previously only used to reconstruct small areas of skin in two patients, appear in the latest issue of Nature journal.
Plastic surgeon Professor Tobias Hirsch, from Bochum Children’s Hospital, described the critical condition of the boy when he was admitted to the burns unit.
Speaking at a phone-in press conference, he said: ‘He’d lost nearly two-thirds of his skin. After two months we were absolutely sure we could do nothing for this kid and he would die.’
Now 21 months later, the boy who had been admitted to a hospital burns unit close to death, appeared to be fully recovered (pictured: a graphical representation of the boy’s skin, with orange areas showing the parts of his body stripped of skin, and green the areas in blisters)
Now the boy had ‘good quality’ skin that was ‘perfectly smooth and quite stable’ and required no treatment with special ointments.
Professor Hirsch added: ‘If he gets any bruises they just heal as normal skin heals.’
Treating the boy had provided useful scientific information that improved understanding of how skin was regenerated and maintained, said the scientists.
The research showed that the human epidermis is sustained by a small number of long-lived stem cells with a powerful ability to renew themselves.
These were vital to the process that allowed the skin to regenerate itself completely about once every month.
Writing in Nature, the scientists said: ‘Transgenic epidermal stem cells can regenerate a fully functional epidermis virtually indistinguishable from a normal epidermis.
‘The different forms of epidermolysis bullosa affect approximately 500,000 people worldwide.
‘The successful outcome of this study paves the way for gene therapy to treat other types of epidermolysis bullosa and provides a blueprint that can be applied to other stem cell-mediated ex-vivo (outside the body) cell and gene therapies.’
In a commentary in Nature, Mariaceleste Aragona and Cedric Blanpain of the Laboratory of Stem Cells and Cancer, at the Free University of Brussels said the work needs to be followed up to make sure the child does not develop skin cancer or that the genetically altered skin does not revert to the earlier state.
But they add: ‘Nonetheless, the authors’ work marks a major step forward in the quest to use stem-cell therapies to treat disease.’
JEB is caused by a recessive gene. If both parents have a copy of the gene, there is a 1 in 4 chance their child will have the conditions