Assuntos
Tratamento Farmacológico da COVID-19 , Fator Regulador 3 de Interferon/deficiência , Interferon-alfa/uso terapêutico , Polietilenoglicóis/uso terapêutico , Doenças da Imunodeficiência Primária/imunologia , Receptor 3 Toll-Like/deficiência , Adulto , COVID-19/diagnóstico , COVID-19/imunologia , COVID-19/virologia , Feminino , Humanos , Fator Regulador 3 de Interferon/genética , Interferon Tipo I/imunologia , Interferon Tipo I/metabolismo , Doenças da Imunodeficiência Primária/complicações , Doenças da Imunodeficiência Primária/genética , Proteínas Recombinantes/uso terapêutico , SARS-CoV-2/imunologia , SARS-CoV-2/isolamento & purificação , Receptor 3 Toll-Like/genética , Resultado do TratamentoRESUMO
Rhino-sinusal infections are serious diseases and possibly lethal. When they are invasive, we easily discuss apergilloses and mucormycoses. The confirmation of the diagnosis of mucormycosis need an extensive surgery for precise histopathological and mycological evaluation. The pathologist may be faced to other rare mycoses such as phaeohyphomycoses, which present different morphological features than mucormycoses and Aspergillus. Once the diagnosis is established, an appropriate antifungal treatment is quickly started. The aim of our work is to report two observations of phaeohyphomycoses, to describe their histopathological features, to discuss complementary diagnostic methods and to present the main differential diagnoses.
Assuntos
Alternaria/isolamento & purificação , Alternariose/microbiologia , Feoifomicose/microbiologia , Rinite/microbiologia , Sinusite/microbiologia , Adulto , Alternaria/ultraestrutura , Alternariose/diagnóstico , Alternariose/patologia , Alternariose/terapia , Anfotericina B/administração & dosagem , Anfotericina B/uso terapêutico , Antifúngicos/uso terapêutico , Terapia Combinada , Desbridamento , Diagnóstico Diferencial , Diagnóstico Precoce , Evolução Fatal , Feminino , Humanos , Lipossomos , Mastoidite/tratamento farmacológico , Mastoidite/microbiologia , Mastoidite/cirurgia , Feoifomicose/diagnóstico , Feoifomicose/patologia , Feoifomicose/terapia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Rinite/diagnóstico , Rinite/patologia , Rinite/terapia , Choque Séptico/etiologia , Sinusite/diagnóstico , Sinusite/patologia , Sinusite/terapiaRESUMO
Deep dermatophytosis has been described in HIV and immunosuppressed patients. Recently, CARD9 (caspase recruitment domain-containing protein 9) deficiency has been reported in individuals with deep dermatophytosis previously classified as "immunocompetent". We report a 24-year-old Brazilian male patient with deep dermatophytosis born to an apparently non-consanguineous family. The symptoms started with oral candidiasis when he was 3 years old, persistent although treated. At 11 years old, well delimited, desquamative and pruriginous skin lesions appeared in the mandibular area; ketoconazole and itraconazole were introduced and maintained for 5 years. At 12 years of age, the lesions, which initially affected the face, started to spread to thoracic and back of the body (15 cm of diameter) and became ulcerative, secretive and painful. Terbinafine was introduced without any improvement. Trichophyton mentagrophytes was isolated from the skin lesions. A novel homozygous mutation in CARD9 (R101L) was identified in the patient, resulting in impaired neutrophil fungal killing. Both parents, one brother (with persistent superficial but not deep dermatophytosis) and one sister were heterozygous for this mutation, while another brother was found to be homozygous for the CARD9 wild-type allele. This is the first report of CARD9 deficiency in Latin America.