Arkader Alexandre, Glotzbecker Michael, Hosalkar Harish S, Dormans John P
Keck School of Medicine, Children's Orthopaedic Center, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.
J Pediatr Orthop. 2009 Mar;29(2):201-7. doi: 10.1097/BPO.0b013e3181982aa2.
Langerhans cell histiocytosis (LCH) is a rare group of disorders of unknown etiology with a wide spectrum of clinical presentation. We sought to identify what, if any, has changed in the past 3 decades. This review outlines the current concepts in etiology and molecular biology, clinical manifestations, imaging features, treatment guidelines, and outcomes for skeletal LCH.
A database of LCH cases diagnosed at a tertiary referral center during a 3-decade period was retrospectively reviewed to identify children with primary bone involvement. All patients' charts and available imaging examinations were reviewed, and the data collected included sex, age, number and location of the musculoskeletal lesions, presence of extraskeletal lesions and/or systemic disease, presence of clinical symptoms, treatment (medical and/or surgical), complications, and outcomes.
Seventy-nine children met the inclusion criteria. Forty-five (57%) of the 79 children had single-bone disease, with a mean age at presentation of 8.9 years, whereas 34 (43%) of the 79 children presented with multiple skeletal lesions (range, 2-7 lesions) at a mean age of 7.4 years. There were 165 skeletal lesions in the 79 patients (mean, 2 lesions per patient). The most common presenting symptom was pain at the lesion site (63 patients, 79%). On imaging, the lesion usually presented as a well-defined, radiolucent lesion located within the diaphysis or metaphysis. Among children with single-bone involvement, 11 underwent observation and symptomatic treatment, 17 had biopsy followed by observation and symptomatic treatment, and 17 had biopsy followed by excision. Eight children also received chemotherapy, and 2 had radiation (early in the series). Among children with multiple-bone disease, 10 underwent biopsy followed by symptomatic treatment, 24 underwent biopsy, followed by chemotherapy, and 3 also received radiation (early in the series).
There is variability of presentation in musculoskeletal LCH. Biopsy is usually indicated for diagnostic confirmation. Although the natural history for most lesions is of gradual healing, curettage and grafting are sometimes indicated to accelerate the healing process. Internal fixation for stability is occasionally necessary. Chemotherapy is used for multisystemic disease, and radiotherapy is no longer used.
朗格汉斯细胞组织细胞增多症（LCH）是一组病因不明的罕见疾病，临床表现多样。我们试图确定在过去30年里是否有任何变化。本综述概述了骨骼LCH在病因学、分子生物学、临床表现、影像学特征、治疗指南及预后方面的当前概念。
回顾性分析一家三级转诊中心在30年期间诊断的LCH病例数据库，以确定原发性骨受累的儿童。查阅了所有患者的病历和可用的影像学检查资料，收集的数据包括性别、年龄、肌肉骨骼病变的数量和部位、骨骼外病变和/或全身疾病的存在情况、临床症状的存在情况、治疗（药物和/或手术）、并发症及预后。
79名儿童符合纳入标准。79名儿童中有45名（57%）患有单骨疾病，发病时的平均年龄为8.9岁，而79名儿童中有34名（43%）表现为多发骨骼病变（范围为2 - 7个病变），平均年龄为7.4岁。79例患者共有165处骨骼病变（平均每位患者2处病变）。最常见的首发症状是病变部位疼痛（63例患者，占79%）。影像学上，病变通常表现为位于骨干或干骺端的边界清晰的透光性病变。在单骨受累的儿童中，11例接受观察和对症治疗，17例进行活检后接受观察和对症治疗，17例进行活检后切除。8名儿童还接受了化疗，2名儿童接受了放疗（在该系列研究早期）。在多骨疾病的儿童中，10例进行活检后接受对症治疗，24例进行活检后接受化疗，3例也接受了放疗（在该系列研究早期）。
肌肉骨骼LCH的表现存在差异。通常需要进行活检以确诊。尽管大多数病变的自然病程是逐渐愈合，但有时需要刮除和植骨以加速愈合过程。偶尔需要进行内固定以保持稳定性。化疗用于多系统疾病，放疗不再使用。
