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

Abstract

INTRODUCTION:

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.

CASE REPORT:

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.

CONCLUSION:

Our case report shows the persistent diagnostic difficulty of the ECD and the particular gravity of neurologic involvement.

• Authors: P Berthe, N Rouzic, L Daelman, C Jacobzone, A Espitia, F Cohen-Aubart, J Haroche, J-F Émile, A Lorleac'h
• Journal: La Revue de medecine interne (Rev Med Interne) Vol. 41 Issue 6 Pg. 413-417 (Jun 2020) ISSN: 1768-3122 [Electronic] France
• Vernacular Title: Utilisation de thérapie ciblée dans la maladie d’Erdheim-Chester : à propos d’un cas avec atteinte du système nerveux central.
• PMID: 32113636 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2020 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Chemical References

• Azetidines
• Piperidines
• Protein Kinase Inhibitors
• Vemurafenib
• BRAF protein, human
• Proto-Oncogene Proteins B-raf
• Mitogen-Activated Protein Kinase Kinases
• cobimetinib

Topics

• Aged
• Azetidines (administration & dosage)
• Drug Therapy, Combination
• Erdheim-Chester Disease (complications, diagnosis, drug therapy)
• Female
• Humans
• Mitogen-Activated Protein Kinase Kinases (antagonists & inhibitors)
• Molecular Targeted Therapy (methods)
• Nervous System Diseases (diagnosis, drug therapy, etiology)
• Piperidines (administration & dosage)
• Protein Kinase Inhibitors (administration & dosage)
• Proto-Oncogene Proteins B-raf (antagonists & inhibitors, genetics)
• Rare Diseases
• Skin Diseases (diagnosis, etiology, pathology, therapy)
• Vemurafenib (administration & dosage)