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

被引：1

作者：

Berthe, P. ^{[1
]}

Rouzic, N. ^{[1
]}

Daelman, L. ^{[2
]}

Jacobzone, C. ^{[3
]}

Espitia, A. ^{[4
]}

Cohen-Aubart, F. ^{[5
]}

Haroche, J. ^{[5
]}

Emile, J-F ^{[6
]}

Lorleac'h, A. ^{[1
]}

机构：

[1] Grp Hosp Bretagne Sud, Serv Med Interne & Malad Infect, 5 Ave Choiseul, F-56322 Lorient, France

[2] Grp Hosp Bretagne Sud, Serv Neurol, 5 Ave Choiseul, F-56322 Lorient, France

[3] Grp Hosp Bretagne Sud, Serv Dermatol, 5 Ave Choiseul, F-56322 Lorient, France

[4] CHU Nantes, Hotel Dieu, Serv Med Interne, Pl Alexis Ricordeau, F-44093 Nantes, France

[5] Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Serv Med Interne,Ctr Natl Reference Histiocytoses, F-75013 Paris, France

[6] Univ Versailles, Hop Ambroise, AP HP, Dept Anat Pathol,EA4340, F-92104 Boulogne, France

来源：

REVUE DE MEDECINE INTERNE | 2020年 / 41卷 / 06期

关键词：

Erdheim-Chester disease; Histiocytosis; BRAE; Neurologic manifestations; Skin manifestations; VEMURAFENIB; EFFICACY;

D O I：

10.1016/j.revmed.2020.02.008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2020 Societe Nationale Francaise de Medecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

引用

页码：413 / 417

页数：5

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