1. Erdheim-Chester disease: a rare non-Langerhans histiocytosis
- Author
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Sofia Santos Costa, Maria José Julião, Manuel João Brito, and Sónia Silva
- Subjects
Erdheim-Chester Disease ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,CD68 ,Biopsy ,Dabrafenib ,General Medicine ,Foamy histiocytes ,medicine.disease ,Skull ,medicine.anatomical_structure ,Child, Preschool ,Diabetes insipidus ,Erdheim–Chester disease ,Non langerhans histiocytosis ,Humans ,Medicine ,Female ,business ,medicine.drug - 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.
- Published
- 2021