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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-016 - A novel PSMB8 mutation causing candle syndrome

Authors: V Messia, M Pardeo, R Nicolai, C Bracaglia, F De Benedetti, A Insalaco

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease, which had been recently reported in 9 patients. It is characterized by onset during the first year of life of recurrent fevers, purpuric skin lesions, arthralgia, progressive lipodystrophy, hypochromic or normocytic anemia, delayed physical development and increased levels of acute phase reactants. …
Literature
1.
Torrelo A: Chronic atypical neutrophilic dermatosis with lipodistrophy and elevated temperature (CANDLE) syndrome. Journal of American Academy of Dermatology. 2010, 62 (3): 489-495. 10.1016/j.jaad.2009.04.046.CrossRef
2.
Ramot Y: Chronic Atypical Neutrophilic Dermatosis with Lipodistrophy and elevated temperature Syndrome: A case report. Pediatric Dermatology. 2011, 28 (5): 538-541. 10.1111/j.1525-1470.2010.01163.x.CrossRefPubMed
3.
Liu Y: Mutations in Proteasome Subunit β Type 8 Cause Chronic Atypical Neutrophilic Dermatosis with Lipodistrophy and Elevated Temperature with evidence of Genetic and Phenotypic Heterogeneity. Arthritis and Rheumatism. 2012, 64 (3): 895-907. 10.1002/art.33368.PubMedCentralCrossRefPubMed
Metadata
Title
P02-016 - A novel PSMB8 mutation causing candle syndrome
Authors
V Messia
M Pardeo
R Nicolai
C Bracaglia
F De Benedetti
A Insalaco
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A123

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