小结
定义
病史和体格检查
关键诊断因素
- 年龄 <15 岁
- 骨痛和/或肿胀
- 皮疹
- 多尿和烦渴
- 生长或性成熟障碍
- 扁平椎
- 肝脾肿大
其他诊断因素
- 咳嗽和呼吸困难
- 胸痛
- 眼眶异常
- 黄疸
- 腹水
- 血细胞减少
- 发热
- 厌食
- 体重减轻
- 易怒
- 耳痛
- 耳分泌物
- 听力损失
- 鼓膜穿孔
- 头痛
- 神经系统体征
- 便血
- 口腔黏膜病变
- 淋巴结肿大
- 甲状腺肿大
危险因素
- 吸烟
- 甲状腺病家族史
- 围产期感染
诊断性检查
首要检查
- 全血细胞计数 (FBC)
- 肝功能检查 (LFT)
- 血清白蛋白
- 肾功能
- 血清电解质
- 血清钙
- inflammatory markers
- endocrine evaluation (adults)
- BRAF V600E mutation analysis (adults)
- 骨骼检查(儿童)
- chest x-ray (children)
- abdominal ultrasound (children)
- fluorodeoxyglucose positron emission tomography (FDG-PET) (adults)
- MRI head with contrast (adults)
- 组织活检
需考虑的检查
- endocrine evaluation (children)
- 凝血功能检查
- 肺功能检查 (PFT)
- 高分辨率胸部 CT 扫描
- 听力测定
- 骨髓穿刺和活检
- MRI head with contrast (children)
- 脊柱 MRI 检查
- 头颅 CT
治疗流程
单系统疾病:累及骨骼
单系统疾病:累及皮肤
single-system disease: isolated lymph node involvement
单系统疾病:累及肺脏
单系统疾病:累及 CNS
single-system disease: neurodegenerative disease
多系统疾病
复发/难治性疾病
撰稿人
作者
Gaurav Goyal, MD
Assistant Professor of Medicine
University of Alabama at Birmingham
Department of Medicine
Division of Hematology/Oncology
Birmingham
AL
利益声明
GG is an author of a number of references cited in this topic.
鸣谢
Dr Gaurav Goyal would like to gratefully acknowledge Dr Oussama Abla and Professor Kimo Stine, previous contributors to this topic.
利益声明
OA declares that he has no competing interests. KS declares that he serves on the Board of the Histiocytosis Association (a nonprofit organization), has provided advice for a legal firm reviewing a case of LCH, and receives honoraria for membership of advisory boards to Pfizer and Behring.
同行评议者
R. Maarten Egeler, MD, PhD
Director of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation, and Autoimmune Diseases
Leiden University Medical Center
Leiden
The Netherlands
利益声明
RME has previously worked with Dr Abla on a review of LCH. RME is an author of several references cited in this topic.
Rima Jubran, MD, MPH
Assistant Professor of Pediatrics
Keck School of Medicine
University of Southern California
Children's Hospital Los Angeles
Los Angeles
CA
利益声明
RJ declares that she has no competing interests.
鉴别诊断
- 脂溢性皮炎
- 幼年性黄色肉芽肿 (JXG)
- Rosai-Dorfman 病 (RDD)
更多 鉴别诊断指南
- Consensus statement for the diagnosis and evaluation of adult patients with histiocytic neoplasms: Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease
- Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages
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