CANDLE Syndrome: A Recently Described Autoinflammatory Syndrome

TÜFEKÇİ Ö., Bengoa Ş., Karapinar T. H., Ataseven E. B., Irken G., ÖREN H.

Journal of Pediatric Hematology/Oncology, vol.37, no.4, pp.296-299, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.1097/mph.0000000000000212
  • Journal Name: Journal of Pediatric Hematology/Oncology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.296-299
  • Keywords: autoimmune hemolytic anemia, CANDLE syndrome, fever, lipodystrophy
  • Dokuz Eylül University Affiliated: Yes

Abstract

© 2015 Wolters Kluwer Health, Inc.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.