Une maladie d’Erdheim-Chester associée à une histiocytose à cellules de Langerhans : un cas d’une forme mixte

IF 0.9 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Revue De Medecine Interne Pub Date : 2025-09-01 DOI:10.1016/j.revmed.2025.02.012

Houria Sahel , Billel Merrouche , Souad Bellaifa , Nacima Djennane , Zine Charef Amir , Abdelkrim Talbi , Ammar Maireche , Radhia Ait Chalal , Amine Habouchi

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引用次数: 0

Abstract

Introduction

Langerhans cell histiocytosis and Erdheim-Chester disease are rare inflammatory myeloid neoplasms. They present characteristic clinical, histological and radiological signs. Their association is exceptional. We report a new observation.

Observation

A 47-year-old man presented with lesions of seborrheic dermatitis-like, intracranial hypertension, paralysis of the sixth cranial nerve, and central diabetes insipidus. The skin biopsy concluded that there was Langerhans cell histiocytosis. The bone scan showed metaphyseal-diaphyseal osteosclerotic lesions of the femur, tibia and humerus. The thoraco-abdomino-pelvic CT scan showed an aortic sheathing, suggesting Erdheim-Chester disease. The search for the BRAF^V600E mutation was negative. The patient was treated with oral corticosteroid therapy then with cladribine which allowed a good evolution.

Conclusion

We report an observation of a mixed form of histiocytosis associating Langerhans cell histiocytosis and Erdheim-Chester disease, with a diagnostic delay of ten years, and having responded well to treatment with cladribine.

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[Erdheim-Chester病合并朗格汉斯细胞组织细胞增多症：混合型1例]。

朗格汉斯细胞组织细胞增多症和埃尔德海姆-切斯特病是罕见的炎症性骨髓性肿瘤。他们表现出特征性的临床、组织学和放射学征象。他们的联系是不同寻常的。我们报告一项新的观察结果。观察：一名47岁男性，表现为脂溢性皮炎样病变，颅内高压，第六脑神经麻痹，中枢性尿崩症。皮肤活检结果为朗格汉斯细胞组织细胞增多症。骨扫描显示股骨、胫骨和肱骨的干骺端-干骺端骨硬化病变。胸腹盆腔CT扫描显示主动脉鞘，提示Erdheim-Chester病。BRAFV600E突变的搜索结果为阴性。患者先接受口服皮质类固醇治疗，然后再使用克拉宾治疗，病情发展良好。结论：我们报告了一种混合形式的组织细胞增多症，与朗格汉斯细胞组织细胞增多症和厄德海姆-切斯特病有关，诊断延迟了十年，并且对克拉德里滨治疗反应良好。

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来源期刊

Revue De Medecine Interne 医学-医学：内科

CiteScore

0.70

自引率

11.10%

发文量

526

审稿时长

37 days

期刊介绍： Official journal of the SNFMI, La revue de medecine interne is indexed in the most prestigious databases. It is the most efficient French language journal available for internal medicine specialists who want to expand their knowledge and skills beyond their own discipline. It is also the main French language international medium for French research works. The journal publishes each month editorials, original articles, review articles, short communications, etc. These articles address the fundamental and innumerable facets of internal medicine, spanning all medical specialties. Manuscripts may be submitted in French or in English. La revue de medecine interne also includes additional issues publishing the proceedings of the two annual French meetings of internal medicine (June and December), as well as thematic issues.