ArticleEuropean journal of pediatrics2016
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
Article in European journal of pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Expanding the Therapeutic Landscape of Pericarditis: A Systematic Review of the Use of Conventional Immunosuppressants.Medicina (Kaunas, Lithuania) · 2026Pooled it
- Role of the Proteasome System in Shaping Cellular Immunological Characteristics and Its Impact in Modulating the Pathogenesis of Immune-Related Diseases.Cells, tissues, organs · 2026Review
- "CANDLE syndrome: A closer look at a rare autoinflammatory disorder".Journal of translational autoimmunity · 2026Review
- Molecular mechanisms in rare proteasomopathies.EULAR rheumatology open · 2026Review
- Review
- Proteasome dysfunction in T cells causes immunodeficiency via cell cycle disruption and apoptosis.International immunology · 2025Article
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.Journal of clinical immunology · 2024Review
- Autoinflammatory Diseases Due to Defects in Degradation or Transport of Intracellular Proteins.Advances in experimental medicine and biology · 2024Review
- Nakajo-Nishimura Syndrome: The First African Case.Mediterranean journal of rheumatology · 2023Article
- Article
- Chaperone-mediated assembly of the proteasome core particle - recent developments and structural insights.Journal of cell science · 2022Review
- Lung involvement in monogenic interferonopathies.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Type I Interferons in the Pathogenesis and Treatment of Autoimmune Diseases.Clinical reviews in allergy & immunology · 2020Review
- Familial Partial Lipodystrophy (FPLD): Recent Insights.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- What lipodystrophies teach us about the metabolic syndrome.The Journal of clinical investigation · 2019Review
- Recurrent Pericarditis in Children and Adolescents.Frontiers in pediatrics · 2019Review
- Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.Journal of inflammation research · 2019Article
- Inflammatory Joint Disorders and Neutrophilic Dermatoses: a Comprehensive Review.Clinical reviews in allergy & immunology · 2018Review
- [Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].Zeitschrift fur Rheumatologie · 2017Review
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledWe described herein a patient with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and a novel mutation in PSMB8 gene. This patient had multiple visceral inflammatory involvements, including rare manifestations, such as Sweet syndrome and pericarditis. A 3-year-old male, Caucasian, was born to consanguineous healthy parents. At the age of 11 months, he presented daily fever (temperature >40 °C), irritability, hepatomegaly, splenomegaly; and tender and itching, erythematous papular and edematous plaque lesions. Echocardiogram showed mild pericarditis. Skin biopsy revealed a neutrophil infiltrate without vasculitis suggesting Sweet syndrome. Mutational screening of PSMB8 gene revealed homozygous c.280G>C, p.A94P mutation. He responded partially to high doses of oral glucorticoid and intravenous methylprednisolone. Colchicine, azathioprine, methotrexate, cyclosporine, and intravenous immunoglobulin were not efficacious. At the age of 3 years and 1 month, tocilizumab was administered resulting in remission of daily fever and irritability. However, there was no improvement of the skin tenderness and itching lesions.
conclusionA new mutation in a CANDLE syndrome patient was reported with pericarditis and mimicking Sweet syndrome. The disease manifestations were refractory to immunosuppressive agents and partially responsive to tocilizumab therapy. WHAT IS KNOWN: • Proteasome-associated autoinflammatory syndromes (PRAAS) include four rare diseases. • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome was seldom reported. What is New: • We described a Brazilian patient with CANDLE syndrome possessing a novel mutation in the PSMB8 gene. • This patient had multiple visceral inflammatory involvements, including rare manifestations, such as pericarditis and mimicking Sweet syndrome.
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