Recurrent fevers, progressive lipodystrophy, and annular plaques in a child

• Published in: Journal of the American Academy of Dermatology Vol. 80; no. 1; pp. 291 - 295
• Main Authors: Cardis, Michael A., Montealegre Sanchez, Gina A., Goldbach-Mansky, Raphaela, Richard Lee, Chyi-Chia, Cowen, Edward W.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2019
• Subjects: autoinflammatory; CANDLE; Child; Chronic Disease; Disease Progression; Female; Fever - etiology; genodermatosis; Humans; interferonopathy; lipodystrophy; Lipodystrophy - etiology; neutrophilic dermatosis; Neutrophils; proteasome; Recurrence; Skin Diseases - complications; Skin Diseases - diagnosis; CANDLE; neutrophilic dermatosis; proteasome; interferonopathy; POMP; autoinflammatory; genodermatosis; NIH; lipodystrophy; PSMB8
• ISSN: 0190-9622; 1097-6787; 1097-6787
• DOI: 10.1016/j.jaad.2018.08.043

•Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory disorder characterized by recurrent fevers, progressive lipodystrophy, and failure to thrive. Cutaneous manifestations include violaceous eyelid edema, perniosis-like acral lesions, and annular erythematous plaques.•CANDLE syndrome is caused by mutations in genes encoding proteins involved in assembly or function of the proteasome.•The histopathology of CANDLE syndrome is distinct and demonstrates dermal infiltration of atypical myeloid cells, occasionally mimicking leukemia cutis.