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CANDLE syndrome

Disease definition

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development.

ORPHA:325004

  • Synonym(s):
    • Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 256040
  • UMLS: C1850568
  • MeSH: -
  • GARD: 10811
  • MedDRA: -

Additional information

Further information on this disease

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