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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature


Other Names for this Disease
  • CANDLE syndrome
  • Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
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Overview

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 11/18/2015

References

  1. Tüfekçi Ö, Bengoa S, Karapinar TH, Ataseven EB, Irken G, Ören. CANDLE syndrome: a recently described autoinflammatory syndrome. J Pediatr Hematol Oncol. 2015 May;37(4):296-9.. May 2015; 37(4):296-299.
  2. CANDLE syndrome. Orphanet. March 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325004.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CANDLE syndrome
  • Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.