[朗格汉斯细胞组织细胞增多症与 Erdheim-Chester 病，存在连续性吗？]
[Langerhans cell histiocytosis and Erdheim-Chester disease, a continuity?].
作者信息
Parreau S, Haroche J, Pommepuy I, Emile J F, Bourras J C, Archambeaud F
机构信息
Service d'endocrinologie, hôpital du Cluzeau, 23, avenue Dominique-Larrey, 87042 Limoges cedex, France.
Service de pathologie, hôpital de la Pitié-Salpétrière, AP-HP, 75013 Paris, France.
出版信息
Rev Med Interne. 2017 Jul;38(7):482-487. doi: 10.1016/j.revmed.2016.10.389. Epub 2016 Nov 23.
INTRODUCTION
Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described.
OBSERVATION
A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation. The patient was treated with vemurafenib with a good clinical course.
CONCLUSION
The literature review finds forty observations linking the two diseases that may suggest a pathophysiological link, especially with the hematopoietic myeloid stem cell CD34+. The term inflammatory myeloid neoplasm was advanced.
引言
厄尔德海姆-切斯特病和朗格汉斯细胞组织细胞增多症是两种在临床、放射学和组织学方面均不同的罕见疾病。然而，已有数例涉及这两种疾病的病例被报道。
病例报告
一名70岁男性患有中枢性尿崩症、睑黄瘤、腹膜后纤维化以及提示厄尔德海姆-切斯特病的腿部骨硬化。骨活检显示朗格汉斯细胞组织细胞增多症，CD1a阳性，存在BRAF V600E突变。该患者接受了维莫非尼治疗，临床过程良好。
结论
文献回顾发现40例将这两种疾病联系起来的病例，这可能提示存在病理生理联系，尤其是与造血髓系干细胞CD34+有关。有人提出了“炎性髓系肿瘤”这一术语。
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