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Published on: April 11, 2019
Erdheim-Chester disease: a rare non-Langerhans histiocytosis
Sofia Costa1, Maria José Julião2, Sónia Silva3
1Pediatric Oncology, Centro Hospitalar e Universitario de Coimbra EPE, Hospital Pediátrico, Coimbra, Portugal sofiacosta89@hotmail.com.
Abstract:
A 3-year-old girl was admitted to our hospital with diabetes insipidus and a left eye proptosis. During investigation of diabetes insipidus, an extensive osteolytic mass, involving skull base and maxillo-facial bones, was revealed. Biopsy exhibited dense infiltrate of foamy histiocytes, which were positive for CD68 and CD163 and negative for CD1a and S100 confirming histopathological diagnosis of Erdheim-Chester disease. Treatment with dabrafenib was initiated, with good response and no side effects.
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