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Erdheim-Chester Disease Presenting as a Suprasellar Mass
Anshu Bandhlish1, Gabrielle A White-Dzuro2, Ariana Barkley3
1Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, USA.
Cureus
|June 26, 2026
Summary
Erdheim-Chester disease (ECD) CNS involvement presents diagnostic challenges. Identifying BRAF V600E mutations in suprasellar masses is crucial for targeted therapy in rare histiocytosis cases.
Area of Science:
- Neurology
- Oncology
- Histiocytosis
Background:
- Erdheim-Chester disease (ECD) is a rare histiocytosis with potential central nervous system (CNS) involvement.
- CNS involvement, though less common, can manifest in the hypothalamic-pituitary axis, meninges, or brain parenchyma, posing diagnostic difficulties.
- Isolated CNS ECD is exceptionally rare, complicating diagnosis and management.
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