Two years after doctors replaced 80 percent of the skin of a boy with a rare disease, he is healthy, attending school, playing soccer, and living without any need for medications, according to medical writer Maria Cheng, writing for the Associated Press.

The boy was hospitalized in 2015 at age 7, with blisters all over his limbs and back, ultimately losing about 60 percent of his outer layer of skin. Doctors at Ruhr University Children’s Hospital in Bochum, Germany induced a coma due to the extreme pain the boy was enduring, and attempted to use skin grafts from the boy’s father, as well as donor skin, but these procedures failed.

“We were forced to do something dramatic because this kid was dying,” said Dr. Michele De Luca of the University of Modena in Italy, who assisted the German doctors.

De Luca and colleagues had experience using gene therapy to replace small amounts of skin, but in this case doctors were forced to warn the boys’ parents that he might not survive the procedure in his condition.

The family, who asked to remain anonymous, decided to try the procedure to improve their son’s quality of life.

Their son’s disease, junctional epidermolysis bullosa, is both rare and incurable. Caused by genetic mutations, patients with the disease are missing the proteins that attach the outer layer of skin to the inner layer. This causes blisters and open sores nearly constantly, which cause pain and lead to other problems.

Doctors took a piece of skin from an area without these symptoms, and added a properly functioning version of the problematic gene to the skin cells in a lab. They were able to grow sheets of skin similar to skin grafts for burn victims. They grew a total of 1 square meter of skin and applied it over three separate operations. This skin grew, and doctors said that within 8 months, almost all of his skin had come grown from the modified stem cells.

De Luca said the patient will be monitored for skin cancer and other issues, but for the moment, no problems have arisen.

These details were published on Wednesday in the journal Nature.

“The parents are very grateful and say their life has completely changed,” De Luca said.

Leave a Reply

Your email address will not be published.