Use of targeting therapy in Erdheim-Chester disease: A case report with neurologic involvement

Erdheim-Chester disease (ECD) is a rare multisystemic disease characterised by an infiltration of various organs by CD68 CD1a histiocytes. The clinical and radiological presentation is very variable. 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.