Abstract
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. Erdheim-Chester disease is considered a potentially severe multisystemic disease with life-threatening manifestations due to the compression of normal structures. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in 100% of cases. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin.
We present the autopsy case of a 48-year-old White woman with an unknown tumor of the heart, where finally autopsy revealed the diagnosis of ECD. The clinical, radiological, and pathological manifestations associated with ECD are highlighted.
Original language | English |
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Journal | AJSP: reviews & reports |
Volume | 27 |
Issue number | 1 |
Pages (from-to) | 29-32 |
Number of pages | 4 |
ISSN | 2381-5949 |
DOIs | |
Publication status | Published - Jan 2022 |
Bibliographical note
Publisher Copyright:Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
Keywords
- "coated aorta"
- autopsy
- BRAFmutation
- case report
- Erdheim-Chester disease