New Form of Deadly Skin Disorder Detected with Cutting-Edge Diagnostic Technology

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A significant number of Americans suffer from chronic inflammatory skin conditions without a clear cause or effective treatments beyond symptom management. However, recent research may lead to precision-medicine based diagnostic testing and targeted therapies.

In a study published in the Nature journal Scientific Reports, researchers at the University of Maryland School of Medicine described a new skin disease in a male patient with erythroderma. Erythroderma causes 80% of his skin to be covered with red, exfoliating lesions that itched and burned. Despite treatment with traditional therapies such as steroid prednisone, anti-itch creams, and immunosuppressive drugs for months, the patient experienced little relief.

Researchers isolated individual circulating blood cells and created a new blood test using flow cytometry to identify specific cytokine signatures in this study led by corresponding author Shawn Kwatra, MD. They received a patent for this method involving “peripheral blood flow cytometry-based immunophenotyping enabled us to identify a novel form of a severe and potentially life-threatening skin disease,” he said.

Erythroderma is an uncommon but serious condition that causes redness and scaling on most of the body’s skin surface. This can lead to issues with temperature regulation, protein and fluid loss, leading to serious complications.

To determine which immune system components were driving inflammatory disease, Dr. Kwatra’s team used a new flow cytometry platform technique for which they received a patent to immunophenotype skin diseases. They discovered that two cytokines called interleukin-13 and interleukin-17 were increased in this patient compared with healthy controls as well as patients with other known causes of erythroderma.

Targeted treatment using biologic inhibitors for IL-13 and IL-17 reversed the patient’s disease. “We found a new role for these cytokines in blood samples from the patient, supporting their use,” said study first author Hannah Cornman, MD, who conducted this research as a medical student at UMSOM.

The authors also identified the cell sources of these pathological cytokines and monitored declines in immunopathogenic (disease-causing) cells and levels of interleukin-13 and IL-17 throughout treatment. “We developed a new diagnostic test to identify an previously unknown skin disease, initiating appropriate treatments,” Dr. Shawn Kwatra said.

This study was funded by the National Institutes of Health, with additional contributions from Duke University School of Medicine, George Washington University School of Medicine, and Johns Hopkins University School of Medicine. “This research represents a promising first step towards developing sophisticated diagnostic tools that use immunophenotyping to identify causes for non-specific inflammatory conditions,” said Mark T. Gladwin, MD.

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