A case of mother and child with <scp>CANDLE</scp> syndrome: Diagnosis and subsequent treatment with baricitinib-Reference-Cited by-同舟云学术

A case of mother and child with CANDLE syndrome: Diagnosis and subsequent treatment with baricitinib

Published:2024-06-16 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Guo William¹^ORCID,Lozeau Daniel¹,Tonnesen Marcia¹,Schuval Susan²,de Jesus Adriana³,Miller Devin¹,Alehashemi Sara³,Kristal Leonard¹

Affiliation:

1. Department of Dermatology Stony Brook University Medical Center Stony Brook New York USA

2. Department of Pediatric Allergy & Immunology Stony Brook University Medical Center Stony Brook New York USA

3. Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology National Institute of Allergy, and Infectious Diseases, National Institutes of Health Bethesda Maryland USA

Abstract

AbstractChronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) or proteasome‐associated autoinflammatory syndrome is a rare autoinflammatory disorder that typically presents in infancy with characteristic symptoms, including recurrent fever, panniculitis, and progressive lipodystrophy, among other findings. We present a case of mother and child with CANDLE syndrome. The child was eventually started on baricitinib with normalization of rash and systemic findings.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15667

Reference11 articles.

1. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

2. PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

3. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

4. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

5. Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)