RESUMO
Targeted therapies with MAPK inhibitors have proven to modulate the clinical manifestations of patients with Langerhans cell histiocytosis (LCH). We explored the presence of BRAFV600E mutation in our cohort of patients with LCH and cholestasis, sclerosing cholangitis, or liver fibrosis that presented resistance to chemotherapy. The BRAFV600E mutation was detected either in the diagnosis (skin and bone) or liver biopsy in our cohort of 13 patients. Thus, we observed a high incidence of BRAFV600E mutation in 100% either in diagnostic biopsy (skin and bone) or liver biopsy in patients with progressive liver disease, sequela, or liver transplant requirement.
Assuntos
Colangite Esclerosante , Colestase , Histiocitose de Células de Langerhans , Proteínas Proto-Oncogênicas B-raf/genética , Colangite Esclerosante/complicações , Colangite Esclerosante/epidemiologia , Colangite Esclerosante/genética , Colestase/complicações , Colestase/genética , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/etiologia , Histiocitose de Células de Langerhans/genética , Humanos , Cirrose Hepática , Mutação , PrevalênciaRESUMO
Demodex mites are commensal organisms rarely found in healthy children. Human demodicosis can be classified as a primary or a secondary form. The secondary form in children usually affects severely immunodepressed children. To our knowledge, this is the first report of human demodicosis associated with Langerhans cell histiocytosis. These cases show that this skin disorder can occur months after completing chemotherapy, without recurrence of the systemic disease.
