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Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0000000000000212
Clinical and Laboratory Observations: PDF Only

CANDLE Syndrome: A Recently Described Autoinflammatory Syndrome.

Tüfekçi, Özlem MD; Bengoa, SebnemYilmaz MD; Karapinar, Tuba Hilkay MD; Ataseven, Eda Büke MD; Irken, Gülersu MD; Ören, Hale MD

Published Ahead-of-Print
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Abstract

CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment.

(C) 2014 by Lippincott Williams & Wilkins.

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