GLAUCIA VANESSA NOVAK

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LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina

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  • article 34 Citação(ões) na Scopus
    CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation
    (2016) CAVALCANTE, Miria Paula V.; BRUNELLI, Juliana B.; MIRANDA, Clarissa C.; NOVAK, Glaucia V.; MALLE, Louise; AIKAWA, Nadia E.; JESUS, Adriana A.; SILVA, Clovis Artur
    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.
  • conferenceObject
    ANTI-RO/SSA and/or ANTI-La/SSB Antibodies: Association with Mild LUPUS Manifestations in 645 Childhood-Onset Systemic LUPUS Erythematosus
    (2016) NOVAK, Glaucia V.; MARQUES, Mariana; BALBI, Verena; GORMEZANO, Natali W.; KOZU, Katia T.; SAKAMOTO, Ana Paula; PEREIRA, Rosa M. R.; TERRERI, Maria Teresa; MAGALHAES, Claudia S.; SR., Silvana B. Sacchetti; SALLUM, Adriana M. E.; SR., Roberto Marini; FERRIANI, Virginia; BARBOSA, Cassia M.; CASTRO, Tania C. M.; RAMOS, Valeria C.; BONFA, Eloisa; SILVA, Clovis A.