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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer Berlin Heidelberg

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DOI

10.1007/bf01986744

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1432-1076

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CANDLE syndrome chronic atypical neutrophilic der

Authors: Miria Paula V Cavalcante Juliana B Brunelli Clarissa C Miranda Glaucia V Novak Louise Malle Nadia E Aikawa Adriana A Jesus Clovis Artur Silva
Publish Date: 2015/11/14
Volume: 175, Issue: 5, Pages: 735-740
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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 3yearold 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 c280GC pA94P 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

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