Doctors Replace Almost All of a Boy’s Skin to Save His Life

Fagjun | Published 2017-11-12 08:06

A young Syrian refugee suffering from a rare, life-threatening genetic disorder has received gene therapy that replaced 80% of his epidermis.

The skin replacement grown in a lab [Photo by CMR Unimore]



The young patient, who was just seven years old at the time, had escaped war-torn Syria with his parents and fled to Germany. However, the horrors of war must have taken a backseat to his rare illness, called junctional epidermolysis bullosa, which causes blisters to form on the sufferer’s body even with light touches. It’s an inherited disease, and its symptoms manifest from birth.


Unfortunately, the disease had hit the seven-year-old boy quite hard. Soon after he was admitted to a hospital in Germany in 2015, he lost most of his epidermis. Doctors tried grafting skin from the boy’s father, but the boy’s body rejected this.


This is where Michele De Luca, an Italian researcher who had used gene therapy to treat another patient with a similar disease, came in.

Growing Healthy Skin

This skin replacement saved a young boy's life. [Photo by Frank Jacobsen/Ruhr-Universität Bochum]



“The prognosis was very poor,” said De Luca of the young boy with the potentially fatal condition. With most of skin gone, the boy’s life was in danger. “You simply can’t live without your epidermis.”


De Luca had received a small sample of the boy’s skin, taken from a spot on his body that wasn’t blistered. He describes the procedure in this paper. Along with his team, De Luca inserted a non-defective copy of the gene LAMB3 into the skin cells. A defective LAMB3 gene is what caused the boy’s disease in the first place. However, a non-defective copy may be what could save the boy’s life.


In epidermolysis bullosa, each of the patient’s skin cells contains the genetic disorder that keeps them from growing healthy skin. Because of this, De Luca had to first grow healthy skin cells for the boy. The defective LAMB3 gene also made it easier for the boy to undergo gene therapy.


The researchers grew the skin cells over a scaffold in their lab, forming large sheets. They were able to use this replacement skin in two surgeries, which occurred in October and November 2015. Doctors were able to cover the boy’s sides, back, and limbs with this stronger, healthier skin. The boy, who before the surgery wasn’t even able to get out of bed due to his illness, “was standing up already by Christmas,” said De Luca. By February, the boy was released from the hospital.

A Normal Life

The boy (pictured above), whose name has not been released, is now leading a normal life. [Photo by Ruhr-Universität Bochum/University of Modena and Reggio Emilia]



Now, the boy is nine years old and is reportedly leading as much of a normal life as a nine-year-old child can live. He apparently loves playing soccer and is quite the robust child.


According to De Luca, the boy’s epidermis began to regenerate after the addition of new cells. This is evidence that just a few stem cells may be able to sustain the body’s entire epidermis. The skin replacement was also so successful that it doesn’t itch, and it also doesn’t need sustained treatment. The boy won’t need to regularly put ointment on his skin, unlike burn patients. He can also heal normally from cuts and bruises.


The patient with a similar condition that De Luca treated 12 years prior to the little boy is still reportedly doing well. Thus, De Luca thinks that the boy’s treatment may remain effective in the long term.

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