News ID: 204114
Published: 0633 GMT November 11, 2017

Scientists replace skin of 'butterfly child'

Scientists replace skin of 'butterfly child'
Scientists replace skin of boy with rare disease.

For the first time, doctors were able to treat a child who had a life-threatening rare genetic skin disease through a transplant of skin grown using genetically modified stem cells.

The grafts replaced 80 percent of the boy's skin, wrote.

The skin of his arms, legs, back and flanks, and some of the skin on his stomach, neck and face was missing or severely affected due to epidermolysis bullosa.

The compassionate-use experimental treatment is detailed in a case study published in the journal Nature.


'Butterfly child'


Skin as fragile as a butterfly's wings — that's how children with epidermolysis bullosa are described and why they're often called butterfly children.

The disease, of which there are five major types and at least 31 subtypes, is incurable.

People with the condition have a defect in the protein-forming genes necessary for skin regeneration.

About 500,000 people worldwide are affected by forms of the disease. More than 40 percent of patients die before reaching adolescence.

Dr. Jouni Uitto, a professor and chairman of the Department of Dermatology and Cutaneous Biology at the Sidney Kimmel Medical College in Philadelphia, said, “Their skin can blister and erode due to something as simple as bumping into something or even the light friction of clothing.”

Epidermolysis bullosa makes the skin incredibly susceptible to infections, and in the case of seven-year-old Hassan, whose treatment was detailed in Nature, those infections can be life-threatening.

A week after he was born in Syria, Hassan had a blister on his back, his father said through an interpreter in an interview provided by the hospital in Germany where the boy was treated.


Search for treatment


By the time Hassan arrived at Bochum, he had lost two-thirds of his surface skin.

Dr. Tobias Rothoeft, consultant at the University Children's Hospital at Katholisches Klinikum Bochum, said, "We had a lot of problems in first days just keeping him alive.”

Doctors tried to promote healing by changing his dressings and treating him with antibiotics, as well as putting him on an aggressive nutrition schedule, but nothing helped. They even tried transplanting skin from Hassan's father.

Dr. Maximilian Kueckelhaus of the Department of Plastic Surgery at Bochum's Burn Center, added, "By that time, he had lost 60 percent of his epidermis, the upper skin layer, and had 60 percent open wounds all over his body.”

Every approach failed, so the doctors prepared Hassan's family for what end-of-life care would entail.

But the parents pleaded, asking the doctors to consult studies and research for experimental treatments that might help.

They found Dr. Michele De Luca at the University of Modena's Center for Regenerative Medicine in Italy.

His publications described an experimental treatment transplanting genetically modified epidermal stem cells that healed small, non-life-threatening wounds in adults.

The medical team reached out to De Luca, asking whether he could help them replicate the procedure on a larger scale to help Hassan, and he agreed.

De Luca told Hassan's parents that he believed there was a 50 percent chance of the treatment being successful.

They were more than willing to accept the risk, to do anything to help their son have a chance at a normal life.


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