Cutaneous manifestations of systemic autoinflammatory disorders

Rare systemic autoinflammatory diseases (sAIDs) are driven by cytokine-mediated uncontrolled inflammation that results from activation of innate immune pathways. sAIDs present with recurrent fever episodes, fatigue, musculoskeletal symptoms, gastrointestinal, neurologic, and skin manifestations. They include hereditary monogenic and acquired multifactorial disorders, show a significant morbidity and usually persist for life. Due to the limited awareness of sAIDs, they are often associated with a considerable delay in diagnosis. Within the last decade, the use of cytokine-neutralizing therapies has been shown to improve the clinical symptoms of many patients with different sAIDs. Because skin involvement, such as urticarial, pustular, or ulcerative eruptions, is common in a variety of autoinflammatory disorders, dermatologists should be aware of the most important diseases and their skin phenotypes. This review gives an overview on prototype sAIDs with focus on cutaneous manifestations, clinical clues, and diagnostic approaches. Effective treatment options, such as anti–interleukin-1–targeted therapies, are discussed.