Glueck, C. and Waertel, G. and Schminke, L. and Brossmann, C. and Lehringer-Polzin, M. and Anagnostopoulos, I. and Hartung, Wolfgang and Fleck, Martin and Glueck, Thomas (2025) A circuitous route to the diagnosis of a very rare disease. SPRINGER MEDIZIN VERLAG GmBH, Berlin.
Full text not available from this repository. (Request a copy)Abstract
This case of a patient with Erdheim-Chester disease highlights the problems in diagnosing this very rare, largely unknown, but highly inflammatory non-Langerhans histiocytosis. This disease shows some characteristic clinical and molecular features including the BRAF V600E mutation, which was also demonstrated in this case in a perirenal tissue biopsy. The patient's condition improved under treatment with peginterferon alfa-2a and anakinra. However, remission for what is now 3 years was only achieved with the combination of anakinra and the BRAF inhibitor dabrafenib.
| Item Type: | Other |
|---|---|
| Uncontrolled Keywords: | ; Erdheim-Chester disease; BRAF V600E-mutation; Non-Langerhans cell histiocytosis; Erdheim-Chester disease; Non-Langerhans cell histiocytosis; Dabrafenib; Anakinra |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin I |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Sep 2026 07:26 |
| Last Modified: | 15 Sep 2026 07:26 |
| URI: | https://pred.uni-regensburg.de/id/eprint/66822 |
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