[Use of targeting therapy in Erdheim-Chester disease: A case report with neurologic involvement].
- Resource Type
- Academic Journal
- Authors
- Berthe P; Service de médecine interne et maladies infectieuses, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France. Electronic address: paulineberthe@hotmail.fr.; Rouzic N; Service de médecine interne et maladies infectieuses, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France.; Daelman L; Service de neurologie, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France.; Jacobzone C; Service de dermatologie, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France.; Espitia A; Service de médecine interne, Hôtel-Dieu, CHU de Nantes, place Alexis-Ricordeau, 44093 Nantes, France.; Cohen-Aubart F; Service de médecine interne, hôpital de la Pitié-Salpêtrière, Sorbonne université, Assistance publique-Hôpitaux de Paris, 2, centre national de référence histiocytoses, 75013, Paris, France.; Haroche J; Service de médecine interne, hôpital de la Pitié-Salpêtrière, Sorbonne université, Assistance publique-Hôpitaux de Paris, 2, centre national de référence histiocytoses, 75013, Paris, France.; Émile JF; Département d'anatomo-pathologie, EA4340, hôpital Ambroise-Paré, université de Versailles, AP-HP, 92104 Boulogne, France.; Lorleac'h A; Service de médecine interne et maladies infectieuses, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France.
- Source
- Publisher: Elsevier Country of Publication: France NLM ID: 8101383 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-3122 (Electronic) Linking ISSN: 02488663 NLM ISO Abbreviation: Rev Med Interne Subsets: MEDLINE
- Subject
- Language
- French
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.
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