Clinicopathological and immunological features of Rowell syndrome: A retrospective cohort study

Rowell syndrome (RS) is a rare skin disease that combines features of lupus with “target-like” skin rash resembling erythema multiforme. It can affect the face, trunk, limbs, and mucosal areas. Because RS looks similar to other autoimmune and blistering skin diseases, it is often difficult to diagnose, and its underlying immune mechanisms and treatments are not well understood.In this study, we reviewed 25 patients with RS seen over 20 years at multiple tertiary hospitals. Most patients were women, and about half already had a diagnosis of systemic lupus erythematosus. Many had painful red patches, target-like lesions, and mucosal erosions, along with blood tests showing lupus-related autoantibodies. We examined whether blocking a key signaling route in immune cells, called the JAK/STAT pathway, might be a useful treatment. Detailed clinical records and blood tests were reviewed, and skin and blood samples were analyzed using molecular techniques to measure gene activity, protein signaling, and circulating inflammatory markers.The results showed a consistent pattern of interferon-related and JAK/STAT pathway activation in the skin and blood of patients, along with typical lupus autoantibodies. These findings support RS as a lupus-associated disease with a distinct “interferon/JAK/STAT” signature. Three patients treated with the JAK inhibitor tofacitinib showed significant improvement of their skin lesions, suggesting that this pathway is not only active but may also be an alternative therapeutic target. Further studies in larger groups are needed to confirm safety and long-term benefit, but this work points toward more precise, mechanism-based treatment options for patients with RS.