NIH Scientists Discover Protein Behind Rare Genetic Skin Disorder
Scientists have identified genomic variants that cause disabling pansclerotic morphea, a rare inflammatory skin disorder characterized by severe skin lesions and poor wound healing, leading to deep scarring. They discovered that patients have an overactive version of the STAT4 protein, which regulates inflammation and wound healing, and found a potential treatment using a drug, ruxolitinib, that targets the inflammatory pathway. The drug, a Janus kinase (JAK) inhibitor, was observed to dramatically improve symptoms in…