U.S. scientists find treatment for rare genetic skin disorder

LOS ANGELES, June 1 (Xinhua) -- Researchers at the U.S. National Institutes of Health (NIH) have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.

Scientists discovered that people with the disorder have an overactive version of a protein called STAT4, which regulates inflammation and wound healing.

The research identified a drug that targets an important feedback loop controlled by the STAT4 protein and significantly improves symptoms in these patients. The results were published Wednesday in The New England Journal of Medicine.

"Researchers previously thought that this disorder was caused by the immune system attacking the skin," said Sarah Blackstone, a predoctoral fellow at the Inflammatory Disease Section of U.S. National Human Genome Research Institute, and co-first author of the study. "However, we found that this is an oversimplification, and that both skin and the immune system play an active role in disabling pansclerotic morphea."

The study suggests that ruxolitinib could be an effective treatment for patients with this disorder. Ruxolitinib is part of a broader class of drugs called JAK inhibitors, which are commonly used to treat arthritis, eczema, ulcerative colitis and other chronic inflammatory diseases.