Boy with a genetic disease has had almost all his skin replaced

A boy’s life has been saved by a gene therapy. The treatment replaced most of the 9-year-old’s skin, correcting a mutation that causes a severe skin-blistering condition. 

Epidermolysis bullosa is a rare disease in which the slightest touch – even dressing, for instance – can cause blisters and ulcers. Those with severe forms of the condition live in constant pain and tend to die young from infections or skin cancer.

The disease is caused by any one of several genetic mutations that lead to the outer layer of skin, the epidermis, lifting off from the layer beneath, sometimes in large patches. Now Michele De Luca at the University of Modena and Reggio Emilia in Italy has used gene therapy to help a boy with the condition who was close to death.

The then 7-year-old, from Syria, was admitted to a hospital in Germany in 2015 with widespread skin infections. Soon after, most of his skin came away. “The prognosis was very poor,” says De Luca. “You simply can’t live without your epidermis.”

He and his team took a 4-centimetre-square patch of remaining skin and genetically altered the cells in a dish, correcting the mutation. They then grew the cells into sheets of skin, which were grafted onto the boy’s body, covering around 80 per cent of him.

Two years since treatment, the boy is now living a normal life, says De Luca. “I believe that the regenerated epidermis will last for a very long time, probably forever.”