Advances in Understanding and Management of Erdheim-Chester Disease
Aniruddha Murahar Kulkarni, Prasanna Kumar Reddy Gayam, Jesil Mathew Aranjani
Abstract
histiocytes. ECD stems from mutations of BRAF and MAP2K1 in hematopoietic stem and progenitor cells (HSPCs), which further differentiate into monocytes and histiocytes. Histopathology reveals lipid-containing histiocytes, which test positive for CD68 and CD133 in immunohistochemistry. Signs and symptoms vary and depend on the organ/s of manifestation. Definitive radiological results associated with ECD include hairy kidney, coated aorta, and cardiac pseudotumor. Treatment options primarily include anti-cytokine therapy and inhibitors of BRAF and MEK signaling.
Topics & Concepts
Erdheim–Chester diseaseDiseaseMedicineDisease managementComputer sciencePathologyHistiocytosisParkinson's diseaseHistiocytic Disorders and TreatmentsAutoimmune and Inflammatory DisordersCutaneous lymphoproliferative disorders research