Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib
Pooja Patel, Raegan Hunt, Zachary J. Pettigrew, Joel Brian Shirley, Tiphanie P. Vogel, Marietta M. de Guzman
Abstract
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder. Cutaneous manifestations of CANDLE syndrome include characteristic recurring violaceous annular plaques comprised of an immature dermal mononuclear cell infiltrate. In CANDLE syndrome, deleterious genetic mutations inhibit proteasome-immunoproteasome function, resulting in cellular accumulation of ubiquitinated waste proteins that activate type I interferon signaling to drive inflammation. We describe a report of successful treatment of a 12-year-old girl with CANDLE syndrome with tofacitinib.
Topics & Concepts
TofacitinibMedicineLipodystrophyCandleDermatologyInflammationImmunologyPathologyHuman immunodeficiency virus (HIV)ChemistryRheumatoid arthritisViral loadOrganic chemistryAntiretroviral therapyAutoimmune and Inflammatory DisordersAutoimmune Bullous Skin DiseasesNeutrophil, Myeloperoxidase and Oxidative Mechanisms