In a groundbreaking development, surgeons have regenerated the epidermis – the uppermost layer of the skin – of a 7-year-old child who was on the verge of death as a result of a lethal skin disease. The new layer of skin – which is fully functional and covers around 80% of the child's body – has enabled him to make a recovery.
The genetically inherited disease – called Junctional Epidermolysis Bullosa (JEB) – causes skin to become fragile, leading to blisters and chronic wounds that can severely affect quality of life, and often lead to skin cancer. The problems stem from mutations in three genes -LAMA3, LAMB3 or LAMC2 – which affect a protein called laminin-332 that is found in the epidermis.
According to the authors of a study detailing the new treatment from the University of Modena, Italy and Ruhr University in Bochum, Germany, the patient in question had a particularly severe form of the disease and had "almost completely lost his epidermis". Pain resulting from his condition was so severe that doctors had prescribed him morphine.
Tobias Rothoeft, from the burns centre at Ruhr University hospital in Bochum, said: "We got this kid transferred in summer 2015 from another hospital that is not a burns centre. He was admitted there because he had developed an infection in which he rapidly lost nearly two thirds of his body surface area. When he was admitted to our burns centre, he was in a septic state, so we had a lot of problems at that stage keeping this kid alive."
At first doctors tried various treatments, including taking skin from the boy's father and grafting it onto the child. "After nearly 2 months we were absolutely sure that we could do nothing for this kid and that he would die," Rothoeft said.
"So, we discussed if we would change the treatment to a palliative care approach, but the parents then asked us to try anything we could. We studied the literature again and approached doctor [Michele] De Luca and his team and he promised us he could give us enough skin to heal this kid."
The doctors used an experimental treatment that involves genetically modified epidermal cells. The team took stem cells from an area of the patient's skin with no blisters and used this to grow new sections of epidermis that contained the non-mutated from of the gene, LAMB3.
This new layer of skin was then grafted onto the patient's body piece by piece. Over the next 21 months, the regenerated epidermis healed successfully without blistering.
De Luca, from the University of Modena, said that the new epidermis "looks basically normal" and the patient is able to live a regular life. "All the clinical, biological and molecular parameters are fine, his epidermis is stable, robust, doesn't blister at all and the functionality is quite good." In addition, the new epidermis is able to heal and grow normally.
Doctors had previously treated two patients with JEB by transplanting genetically modified, however this was only done on a small area of skin.
Details of the new treatment are published in the journal Nature.