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Erschienen in: European Journal of Pediatrics 5/2016

14.11.2015 | Case Report

CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature—a rare case with a novel mutation

verfasst von: Miria Paula V. Cavalcante, Juliana B. Brunelli, Clarissa C. Miranda, Glaucia V. Novak, Louise Malle, Nadia E. Aikawa, Adriana A. Jesus, Clovis Artur Silva

Erschienen in: European Journal of Pediatrics | Ausgabe 5/2016

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Abstract

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 °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.
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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Metadaten
Titel
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature—a rare case with a novel mutation
verfasst von
Miria Paula V. Cavalcante
Juliana B. Brunelli
Clarissa C. Miranda
Glaucia V. Novak
Louise Malle
Nadia E. Aikawa
Adriana A. Jesus
Clovis Artur Silva
Publikationsdatum
14.11.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
European Journal of Pediatrics / Ausgabe 5/2016
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-015-2668-4

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