en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Share:
Send email
Share:
abstract:
Review paper

CANDLE syndrome – a narrative review

Aleksandra Snopkowska
1
,
Joanna Gołda
2
,
Julia Mężyk
3
,
Piotr Gacka
4
,
Marcin Dołęga
4

  1. Faculty of Medicine, Wrocław Medical University, Wrocław, Poland
  2. V General Surgery Department, J. Gromkowski Regional Specialist Hospital, Wrocław, Poland
  3. Department of Internal Medicine and Geriatrics, A. Falkiewicz Specialist Hospital, Wrocław, Poland
  4. Clinical Department of Diabetology and Internal Medicine, J. Mikulicz-Radecki University Hospital, Wrocław, Poland
Pediatr Pol 2024; 99 (4):
DOI: https://doi.org/10.5114/polp.2024.142557
Online publish date: 2024/09/30
View full text Get citation
 
PlumX metrics:
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.
keywords:

fever, dermatosis, lipodystrophy, CANDLE syndrome