Boy has whole-body skin graft to fix rare condition
GERMANY: A schoolboy suffering from a devastating disease that left him covered in blisters and confined to a hospital bed is playing football after being fitted with an entirely new skin.
The 7-year-old German boy was born with the incredibly rare condition junctional epidermolysis bullosa, which causes skin to blister and tear at the slightest touch.
Although doctors in his home country had tried skin grafts taken from his father, none had been successful and he was forced to live in the burns unit at Bochum’s Children’s Hospital, in the Ruhr district, because most of his skin was missing or damaged.
In desperation doctors contacted experts in other countries, and found a group of Italian scientists who were experimenting with skin cell regeneration techniques.
In a world first, the team took a sample of skin just 4 square centimetres, extracted the stem cells, then genetically engineered them back into healthy cells. The healthy tissue was then grown into large skin grafts that were used to replace 80 per cent of the boy’s skin in three operations.
His new skin no longer blisters and the youngster has been able to play football for the first time and enjoy the rough and tumble of a schoolboy’s life.
Dr Michele de Luca, from the University of Modena, Italy, who led the gene therapy team, said: ‘‘The patient was in danger of life. The prognosis was very poor, but he survived.
‘‘He went back to normal life, including school and sports. His epidermis is stable; robust. It doesn’t blister at all.’’
Junctional epidermolysis bullosa, which affects just one in every 2 million people, is caused by a faulty Lamb3 gene, and can eventually lead to skin cancer and death.
In the new procedure, the Italian scientists used a virus to insert a healthy gene into the boy’s stem cells and then used the cells to create sheets of genetically modified tissue, free from the mutation.
Over the course of three operations, surgeons attached the new skin to the boy’s body. Once established, the regenerated epidermis then began to heal itself and stopped blistering.
Scientists have previously only tried the technique for small areas, but the success proves it could be used for larger areas, potentially offering hope for burns victims.
Writing in the journal the scientists said: ‘‘The successful outcome of this study paves the way for gene therapy to treat other types of epidermolysis bullosa.’’
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