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- W3119480710 abstract "Abstract Background Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. Cases Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics. Conclusion A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy." @default.
- W3119480710 created "2021-01-18" @default.
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- W3119480710 date "2021-01-06" @default.
- W3119480710 modified "2023-10-16" @default.
- W3119480710 title "Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease" @default.
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- W3119480710 doi "https://doi.org/10.1186/s13223-020-00505-2" @default.
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