CANDLE syndrome

CANDLE syndrome
CANDLE syndrome is inherited via autosomal recessive manner

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory responses throughout the body, multiple types of skin lesions, and recurrent long-term fever symptoms.[1] The current known cause for the disorder is a mutation in the PSMB8 gene or mutations in other closely related genes.[1] The syndrome was first named and classified in March 2010 after four patients were reviewed with similar symptoms.[2] There have been approximately 30 cases reported in the scientific literature as of 2015.[3]

  1. ^ a b Tüfekçi Ö, Bengoa Ş, Karapinar TH, Ataseven EB, İrken G, Ören H (May 2015). "CANDLE syndrome: a recently described autoinflammatory syndrome". Journal of Pediatric Hematology/Oncology. 37 (4). Lippincott Williams & Wilkins: 296–299. doi:10.1097/MPH.0000000000000212. PMID 25036278. S2CID 37875499.
  2. ^ Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendínez F, Hernández A, López-Robledillo JC, Dadban A, Requena L, Paller AS (March 2010). "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome". Journal of the American Academy of Dermatology. 62 (3). Elsevier: 489–495. doi:10.1016/j.jaad.2009.04.046. PMID 20159315.
  3. ^ Cite error: The named reference HFM was invoked but never defined (see the help page).