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NIH Record - 75th Anniversary - National Institutes of Health

NIH Scientists Find Treatment for Rare Genetic Skin Disorder

Scientific image showing green, spiky substance lined with bright blue ovals

Genomic variation in the STAT4 gene causes disorganized fibroblasts that fail to heal wounds properly. Nuclei of the fibroblasts are shown in blue.


Researchers at NIH and their colleagues 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 work also 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 in the New England Journal of Medicine.

The study was led by NHGRI researchers in collaboration with researchers from the University of California, San Diego and the University of Pittsburgh. Researchers from NIAMS and NIAID also participated in the study.

Only a handful of patients have been diagnosed with disabling pansclerotic morphea, a disorder first described in the medical literature around 100 years ago. The disorder causes severe skin lesions and poor wound healing, leading to deep scarring of all layers of the skin and muscles. The muscles eventually harden and break down while the joints stiffen, leading to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now.

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