Dermatologists are the first to identify the different types of skin diseases, but when a rare condition comes up, it can be passed to the University’s Stem Cell Institute for treatment.

On Nov. 1, the institute successfully administered the first bone-marrow transplant to cure a rare genetic disease in a young boy – one that is difficult to detect in its early stages.

Recessive dystrophic epidermolysis bullosa is a childhood disease, which makes the skin extremely susceptible to injury, even through minor contact.

An absence of collagen and small fibers that cement skin to the body is characteristic of the disease, said John Wagner, head of pediatric blood and marrow transplantation.

The disorder occurs in 50 per 1 million live births in the United States, according to research by Emedicine, an online medical reference.

Major symptoms of the disease include skin blisters, which generally appear in babies and toddlers. The disease affects both males and females equally and occurs in all racial and ethnic groups, according to the National Institutes of Health.

About two years ago, the mother of the boy currently undergoing treatment sought help from the University to possibly cure her son’s ailment.

Maria Hordinsky, head of the University’s dermatology department, said the disease was found through a skin biopsy and careful study through a microscope.

But the disease was not new; what is new is that University researchers were able to generate stem cells used in this treatment onsite, Jakub Tolar, associate professor of pediatrics and marrow transplantation, said.

He said after conducting experiments on mice, researchers were able to find the protein missing in bone marrow for those with the disease.

They corrected the disease in mice through bone-marrow transplants with a 25 percent success rate.

Hordinsky said the ability to correct defects in the skin through mouse-model research is “pretty phenomenal.”

“We persevered in our quest to find a cure for this ‘incurable’ disease, despite all the politics revolving around stem cell research,” Wagner said.

He said this unique experiment had the support of both the University and the Children’s Cancer Research Fund.

Controversy often arises when stem cells are derived from embryos, Maureen Condic, associate professor at the University of Utah’s School of Medicine, said. Condic has critiqued the practice in the past.

There is no controversy in terms of marrow-based stem cells, she said.

The University performed its first successful human blood and marrow transplant in 1968. Since then, nearly 5,000 transplants have been performed there, according to the University’s Children’s Hospital.

Chris Shi, a University agronomy and plant genetics alumnus, said the use of stem cell research is warranted to find cures, since cells are allowed to grow back for other purposes in a controlled environment.

“It is very justified to use stem cells and helps rid of skin diseases and cancer,” Shi said.