Scholarlink

<p>This case of a&#xa0;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 <i>BRAF</i> V600E mutation, which was also demonstrated in this case in a&#xa0;perirenal tissue biopsy. The patient’s condition improved under treatment with peginterferon alfa-2a and anakinra. However, remission for what is now 3&#xa0;years was only achieved with the combination of anakinra and the <i>BRAF</i> inhibitor dabrafenib.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Über Umwege zur Diagnose einer sehr seltenen Erkrankung

  • 期刊论文

  • 发表日期：

    2025年8月5日

查看全文
  • C. Glück,
  • G. Waertel,
  • L. Schminke,
  • C. Brossmann,
  • M. Lehringer-Polzin,
  • I. Anagnostopoulos,
  • W. Hartung,
  • M. Fleck,
  • Thomas Glück

摘要

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.