• P Berthe, N Rouzic, L Daelman, C Jacobzone, A Espitia, F Cohen-Aubart, J Haroche, J-F Émile, and A Lorleac'h.
• Service de médecine interne et maladies infectieuses, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France. Electronic address: paulineberthe@hotmail.fr.
• Rev Med Interne. 2020 Jun 1; 41 (6): 413-417.

IntroductionErdheim-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.Case ReportWe 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.ConclusionOur case report shows the persistent diagnostic difficulty of the ECD and the particular gravity of neurologic involvement.Copyright © 2020 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

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