CANDLE syndrome – a narrative review
CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a rare autoinflammatory disorder beginning in early childhood. This narrative review provides an extensive overview of CANDLE syndrome, including its epidemiology, aetiology, clinical manifestat...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-09-01
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| Series: | Pediatria Polska |
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| Online Access: | https://www.termedia.pl/CANDLE-syndrome-a-narrative-review,127,54668,1,1.html |
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| _version_ | 1832584875147788288 |
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| author | Aleksandra Snopkowska Joanna Gołda Julia Mężyk Piotr Gacka Marcin Dołęga |
| author_facet | Aleksandra Snopkowska Joanna Gołda Julia Mężyk Piotr Gacka Marcin Dołęga |
| author_sort | Aleksandra Snopkowska |
| collection | DOAJ |
| description | CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a rare autoinflammatory disorder beginning in early childhood. This narrative review provides an extensive overview of CANDLE syndrome, including its epidemiology, aetiology, clinical manifestations, diagnostic challenges, and current treatment options. The syndrome is associated with gene mutations encoding proteasome or immunoproteasome subunits, particularly PSMB8, contributing to disrupted proteostasis and aberrant type 1 interferon production. The diagnostic criteria remain undefined, necessitating a multidisciplinary approach for accurate diagnosis and management. Despite therapeutic complexities, recent advancements in genetic testing and targeted therapies, notably Janus kinase inhibitors, offer promising avenues for improved patient outcomes. Further research and clinical trials are imperative to enhance understanding and optimise treatment strategies for this rare and debilitating condition. |
| format | Article |
| id | doaj-art-91fc326b90cf41f08069eb90d13cdc91 |
| institution | Kabale University |
| issn | 0031-3939 2300-8660 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj-art-91fc326b90cf41f08069eb90d13cdc912025-01-27T10:39:50ZengTermedia Publishing HousePediatria Polska0031-39392300-86602024-09-0199433533910.5114/polp.2024.14255754668CANDLE syndrome – a narrative reviewAleksandra SnopkowskaJoanna GołdaJulia MężykPiotr GackaMarcin DołęgaCANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a rare autoinflammatory disorder beginning in early childhood. This narrative review provides an extensive overview of CANDLE syndrome, including its epidemiology, aetiology, clinical manifestations, diagnostic challenges, and current treatment options. The syndrome is associated with gene mutations encoding proteasome or immunoproteasome subunits, particularly PSMB8, contributing to disrupted proteostasis and aberrant type 1 interferon production. The diagnostic criteria remain undefined, necessitating a multidisciplinary approach for accurate diagnosis and management. Despite therapeutic complexities, recent advancements in genetic testing and targeted therapies, notably Janus kinase inhibitors, offer promising avenues for improved patient outcomes. Further research and clinical trials are imperative to enhance understanding and optimise treatment strategies for this rare and debilitating condition.https://www.termedia.pl/CANDLE-syndrome-a-narrative-review,127,54668,1,1.htmlfever dermatosis lipodystrophy candle syndrome |
| spellingShingle | Aleksandra Snopkowska Joanna Gołda Julia Mężyk Piotr Gacka Marcin Dołęga CANDLE syndrome – a narrative review Pediatria Polska fever dermatosis lipodystrophy candle syndrome |
| title | CANDLE syndrome – a narrative review |
| title_full | CANDLE syndrome – a narrative review |
| title_fullStr | CANDLE syndrome – a narrative review |
| title_full_unstemmed | CANDLE syndrome – a narrative review |
| title_short | CANDLE syndrome – a narrative review |
| title_sort | candle syndrome a narrative review |
| topic | fever dermatosis lipodystrophy candle syndrome |
| url | https://www.termedia.pl/CANDLE-syndrome-a-narrative-review,127,54668,1,1.html |
| work_keys_str_mv | AT aleksandrasnopkowska candlesyndromeanarrativereview AT joannagołda candlesyndromeanarrativereview AT juliamezyk candlesyndromeanarrativereview AT piotrgacka candlesyndromeanarrativereview AT marcindołega candlesyndromeanarrativereview |