gdc-0973 and Nervous-System-Diseases

Erdheim-Chester disease (ECD) is a rare multisystemic disease characterised by an infiltration of various organs by CD68. We report the case of a 71-year-old woman with ECD which was revealed by neurological and cutaneous manifestations. The diagnosis was confirmed by skin biopsy and the BRAFV600E mutation was identified in skin tissue, leading to the use of combined therapy targeting the RAS-RAF-ERK-MEK pathway. This therapy allowed an improvement of cutaneous manifestations but neurological manifestations lead to death, underlying their notable severity.. Our case report shows the persistent diagnostic difficulty of the ECD and the particular gravity of neurologic involvement.

Topics: Aged; Azetidines; Drug Therapy, Combination; Erdheim-Chester Disease; Female; Humans; Mitogen-Activated Protein Kinase Kinases; Molecular Targeted Therapy; Nervous System Diseases; Piperidines; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Rare Diseases; Skin Diseases; Vemurafenib