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.
Department of Pediatric Hematology, Faculty of Medicine, Dokuz Eylül University, Balcova, Izmir, Turkey
Ö.T.: collection of data and writing the manuscript; Ş.Y.B., T.H.K., E.B.A., and G.İ.: management of the case; H.Ö.: diagnosis, collecting the data, writing the manuscript, and final approval of the version to be published.
The consent for publishing the picture of the patient was obtained from the parents.
The authors declare no conflict of interest.
Reprints: Hale Ören, MD, Department of Pediatric Hematology, Faculty of Medicine, Dokuz Eylül University, Balcova 35340, Izmir, Turkey (e-mail: email@example.com).
Received March 13, 2014
Accepted June 3, 2014