Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 175, Issue 5, Pages 735-740Publisher
SPRINGER
DOI: 10.1007/s00431-015-2668-4
Keywords
CANDLE syndrome; Tocilizumab; Sweet syndrome; PSMB8 gene
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Funding
- Conselho Nacional do Desenvolvimento Cientifico e Tecnologico (CNPQ) [302724/2011-7]
- Federico Foundation
- Nucleo de Apoio a Pesquisa Saude da Crianca e do Adolescente da USP (NAP-CriAd)
- NIAMS Intramural Research program (IRP) NIH
- NIAMS
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We 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 A degrees 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. Conclusion: A 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.
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