RESUMO
Osseous sarcoidosis is relatively uncommon, and treatment with corticosteroids is not always effective. Moreover, patients with an advanced stage of pulmonary sarcoidosis are sometimes infected with aspergillus in the cavities of the pulmonary lesions, and long-term use of corticosteroids should be prohibited to prevent the development of fatal invasive pulmonary aspergillosis. Here, we described a unique case of osseous sarcoidosis with pulmonary aspergillosis, showing a rapid improvement of the osseous symptoms just after the administration of the antifungal agent, itraconazole. Itraconazole is likely to become a candidate among new therapeutic agents for osseous sarcoidosis.
Assuntos
Antifúngicos/uso terapêutico , Doenças Ósseas/diagnóstico por imagem , Dedos , Itraconazol/uso terapêutico , Aspergilose Pulmonar/tratamento farmacológico , Indução de Remissão/métodos , Sarcoidose/diagnóstico por imagem , Doenças Ósseas/tratamento farmacológico , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Aspergilose Pulmonar/complicações , Aspergilose Pulmonar/diagnóstico , Sarcoidose/tratamento farmacológico , Tomografia Computadorizada por Raios XRESUMO
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder caused by mutations in seven genes involved in telomere biology, with approximately 20% of cases having pulmonary complications. DKC1 mutations exhibit a severe disease phenotype of DC that develops in early childhood. Here, we report a unique case of DC with pulmonary fibrosis diagnosed at the age of 46. A novel missense mutation(p.Arg65Lys) of DKC1 was detected, and predicted to show a weak mutagenic effect. In spite of the steroid and immunosuppressive treatment, he died of an acute exacerbation seven months after the initial visit. This case suggests that mutation subtypes can cause heterogeneity in DC and pulmonary fibrosis.