Article
From a Long-Standing Yellowish Plaque to a Diagnosis of a Rare Disorder: A Case of Erdheim-Chester Disease Treated With Vemurafenib.
American journal of medical genetics. Part A - 1 May 2026
Yilmaz Bugra, Akoglu Gulsen, Sayin Selim, Kuzu Isinsu, Kivrak Hale, Ayli Meltem
Abstract excerpt
Erdheim-Chester disease (ECD) is a rare, systemic, and potentially malignant non-Langerhans cell histiocytosis characterized by the infiltration of foamy histiocytes into multiple organ systems. The diagnosis of ECD is often complicated and time-consuming due to its rarity and heterogeneous presentation. A 39-year-old female presented with a progressively enlarging yellowish plaque measuring 5 × 2 cm on left...
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