Incurable skin disease: Doctors save seven-year-old's life with new gene therapy

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The butterfly child receives a second skin through gene therapy

Seven-year-old Hassan suffers from what is known as butterfly disease, a congenital skin disease that has already destroyed a large part of the child's epidermis. After all established therapies had failed, a medical team made a final attempt to save the boy's life through gene therapy. With great success, because only two years later, Hassan can largely participate in normal everyday life again. The researchers are currently reporting on the course of the treatment in the specialist magazine "Nature".


Skin peels off with the slightest touch

For the first time, medical professionals have successfully treated a boy with massive skin damage with gene therapy. The boy suffers from the life-threatening butterfly disease, in which the skin peels off in great pain as a result of the smallest touch. In order to save the child's life, the treatment team from the Ruhr-Universität Bochum and the Center for Regenerative Medicine at the University of Modena (Italy) carried out an experimental therapy: They transplanted skin made from genetically modified stem cells onto the wound surfaces, thereby largely helping the boy to get one Complaint-free life, according to the Bergmannsheil University Clinic.

Doctors transplanted almost one square meter of transgenic epidermis into a terminally ill boy. (Image: Alexander Raths /

Skin layers are not sufficiently anchored to one another

The hereditary disease epidermolysis bullosa is considered incurable and severely restricts the quality of life of those affected. It is also known as "butterfly disease" because the skin - like the delicate wings of a butterfly - is extremely vulnerable.

The reason for this are mutations in certain genes that are responsible for the formation of the protein laminin-332. If these are not intact, the upper layer of skin (epidermis) can only insufficiently bond with the underlying skin layer (dermis). As a result, even the slightest impact or impact can cause blisters, wounds and scarring to form on the surface of the skin and the skin to peel off.

Boy weighs only 17 kilograms

Depending on how severe the disease is, it can also affect internal organs or cause severe functional disorders. It is often life-threatening - as was the case with little Hassan. When the then seven-year-old was admitted to the children's intensive care unit of the Catholic Clinic in Bochum in June 2015, 60 percent of his epidermis had already been destroyed, reports Bergmannsheil.

"He suffered from severe sepsis with a high fever and weighed only 17 kilograms - a life-threatening condition," said Dr. Tobias Rothoeft, senior physician at the University Clinic for Pediatric and Adolescent Medicine at the Catholic Clinic in Bochum.

Cooperation with Italian colleagues

Since all established therapies had failed, the Bochum team of paediatricians and plastic surgeons decided in view of the poor prognosis for an experimental therapy: the transplantation of genetically modified epidermal stem cells. The work of Prof. Dr. Michele De Luca from the Center for Regenerative Medicine at the University of Modena (Italy). He had already tested a gene therapy for epidermolysis bullosa on two patients - but only used smaller skin grafts.

After the parents had given their consent and the necessary permits had been obtained, the project could start. The German doctors sent some of the seven-year-old's skin cells to Modena. The Italian colleagues smuggled the healthy gene into the epidermal stem cells obtained from them with the help of so-called retroviral vectors. The genetically modified stem cells were then propagated in the laboratory and processed into transgenic skin grafts.

Almost all parts of the body are covered with bred

After the OP center of the Bergmannsheil University Hospital was certified as a genetic engineering facility, the cultivated skin was transplanted in three operations on arms and legs, the entire back, the flanks and parts of the abdomen, as well as the neck and face.

"In total, 0.94 square meters of transgenic epidermis was transplanted to the small patient to cover all defects and thus 80 percent of his body surface", says private lecturer Dr. Tobias Hirsch, Senior Consultant in Charge at the Clinic for Plastic Surgery and Serious Burn Injuries at Bergmannsheil.

After a short time, the child was feeling better, according to the report, the changed stem cells had formed a new epidermis with intact laminin 332 protein in the area of ​​all transplanted skin areas. “After the second operation, his condition improved enormously. Today his skin is stable, he goes to school, plays soccer and can lead a largely normal life, ”said Tobias Rothoeft from the children's clinic in Bochum, opposite the news agency“ dpa ”.

In the case of injuries to the new skin, healing was no different from that of other children. The introduction of the intact gene into the genome of the epidermal stem cells had worked and the scientists were able to prove that it was stable.

The large-scale skin grafting was a major challenge for the doctors. (Image: AntonioDiaz /

According to the international treatment team, the boy is the first patient in the world who has received extensive skin grafts from transgenic epidermal stem cells, reports Bergmannsheil. "This approach offers considerable potential for the research and development of new therapeutic methods for the treatment of epidermolysis bullosa and for patients with major skin damage," explains Dr. Tobias Hirsch.

Extreme challenge for the medical team

However, the therapy of little Hassan demanded a lot from the experts: "Transplanting 80 percent of the skin and monitoring the patient in intensive care for eight months was an extreme challenge," emphasize Tobias Rothoeft and Tobias Hirsch. “The close cooperation between the Bochum clinics and the expertise of the University of Modena has led to success. We are very proud of this."

According to the experts, it must now be shown whether the course of therapy will continue to be so positive. In general, with gene therapies like this, there is a risk that the new gene will integrate into an unfavorable place in the genome and, in the worst case, develop cancer. So far, however, no such developments or a tumor have been discovered in the boy, the researchers inform. The same applies to the two patients who had already received smaller skin grafts a few years ago. (No)

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