背景和目的:Melorheostopsis,在文献中也被称为Leri病,是一种不寻常的间充质发育不良,临床表现为良性硬化性骨发育不良;它经常发生在青春期后期。骨骼系统中的任何骨骼都可能受到这种疾病的影响,虽然下肢的长骨是最常见的,在任何年龄。Melorheostosis有一个慢性进化,在早期阶段通常没有症状。病因尚不清楚,然而,已经提出了许多理论可以解释这种病变形成的出现。与其他良性或恶性骨病变的关联也是可能的,与骨肉瘤有关,恶性纤维组织细胞瘤,或Buschke-Ollendorff综合征也有报道。也有报道将先前存在的恶性骨病病变恶性转化为恶性纤维组织细胞瘤或骨肉瘤的病例。只能根据放射学图像来诊断骨髓增生病,但是,由于其多态性,额外的影像学检查通常是必要的,有时只有活检才能确定诊断.因为目前没有基于科学证据的治疗指南,由于全球确诊病例数较少,我们的目标是强调早期识别和特异性手术治疗,以获得更好的预后和结局.材料和方法:我们对由原始论文组成的文献进行了综述,病例报告,和病例系列,并介绍了恶性骨病的临床和临床特征。我们的目的是综合文献中可用的治疗方法,并确定与melorheostosis治疗相关的未来可能的方向。此外,我们介绍了一名46岁的女性患者在布加勒斯特大学急诊医院骨科收治的股骨恶性骨病病例的结果,该患者患有左大腿严重疼痛和关节活动受限。在临床检查之后,患者主诉左大腿中部三分之一的前内侧室疼痛;疼痛是自发出现的,在体力活动期间加重。疼痛是在两年前开始的,但患者在服用非甾体抗炎药后疼痛完全缓解。在过去的六个月里,在服用非甾体类抗炎药后,患者的疼痛强度增加,但无明显改善.患者的症状主要取决于肿瘤体积的增加和对邻近组织的质量影响,尤其是血管和股神经.CT检查和骨闪烁显像显示左股骨中三分之一的独特病变,胸部无肿瘤改变,腹部,和骨盆区域;然而,在股骨干的水平,有一个局部的皮质和皮质周围骨病变形成,围绕大约180度的股骨干(前,中间,和横向)。它具有主要的硬化结构,但与骨皮质增厚的溶解区域和骨膜反应区域有关。下一个治疗姿势是使用大腿水平的外侧入路进行切开活检。组织病理学结果支持melorheostosis的诊断。此外,免疫组织化学测试完成了通过经典组织病理学技术进行显微镜检查后获得的数据。患者出院,并在专门的医疗中心进行了八周的全面医疗恢复计划,在此期间,她还接受了最大剂量的镇痛治疗,但症状没有改善.考虑到疼痛的慢性演变,八周后对保守治疗完全没有反应,以及在melorheostosis的情况下缺乏治疗指南,需要考虑手术方法.这种情况下的手术选择,考虑到病变在股骨干水平的圆周位置,是根治性切除术.手术方法包括对健康骨组织进行分段切除,并用模块化肿瘤假体重建剩余的缺损。在术后45天控制时,患者不再抱怨手术后的肢体疼痛,并且在没有步态困难的情况下完全支持移动。随访期为一年,患者疼痛完全缓解,功能恢复良好。结果:在无症状患者的情况下,保守治疗似乎是一个不错的选择,效果最佳.然而,对于良性肿瘤,目前尚不清楚根治性手术是否是可行的选择.结论:Melorheostosis仍然是一种尚未完全了解的疾病,鉴于全球病例数量有限,因此,缺乏有关专门治疗的临床指南.
Background and Objectives: Melorheostosis, also referred to in the literature as Leri\'s disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone dysplasia; it frequently occurs in late adolescence. Any bone in the skeletal system can be affected by this disease, though the long bones of the lower extremities are the most common, at any age. Melorheostosis has a chronic evolution, and symptoms are usually absent in the early stages. The etiopathogenesis is still unknown, however, numerous theories have been proposed that could explain the appearance of this lesion formation. An association with other benign or malignant bone lesions is also possible, and associations with osteosarcoma, malignant fibrous histiocytoma, or Buschke-Ollendorff syndrome have also been reported. There have also been reported cases of the malignant transformation of a pre-existing melorheostosis lesion into malignant fibrous histiocytoma or osteosarcoma. The diagnosis of melorheostosis can be made only based on radiological images, but, due to its polymorphism, additional imaging investigations are often necessary and sometimes only a biopsy can establish a definite diagnosis. Because there are currently no guidelines for treatment based on scientific evidence, due to the low number of cases diagnosed worldwide, our objective was to highlight the early recognition and specific surgical treatments for better prognosis and outcomes. Materials and Methods: We conducted a
review of the literature consisting of original papers, case reports, and case series and presented the clinical and paraclinical characteristics of melorheostosis. We aimed to synthesize the treatment methods available in the literature as well as determine possible future directions related to the treatment of melorheostosis. Furthermore, we presented the results of a case of femoral melorheostosis admitted to the orthopedics department of the University Emergency Hospital of Bucharest in a 46-year-old female patient with severe pain in the left thigh and limitation of joint mobility. Following the clinical examination, the patient complained of pain in the middle third of the left thigh in the antero-medial compartment; the pain appeared spontaneously and was aggravated during physical activity. The pain started about two years prior, but the patient experienced complete pain relief after the administration of non-steroidal anti-inflammatory drugs. In the last six months, the patient presented an increase in pain intensity without significant improvement following the administration of non-steroidal anti-inflammatory drugs. The patient\'s symptoms were mainly determined by the increase in the volume of the tumor and the mass effect on the adjacent tissues, especially on the vessels and the femoral nerve. The CT examination and bone scintigraphy showed a unique lesion in the middle third of the left femur and no oncological changes in the thoracic, abdominal, and pelvic regions; however, at the level of the femoral shaft, there was a localized cortical and pericortical bone lesion formation that surrounded approximately 180 degrees of the femoral shaft (anterior, medial, and lateral). It had a predominantly sclerotic structure but was associated with lytic areas with thickening of the bone cortex and areas of periosteal reaction. The next therapeutic gesture was to perform an incisional biopsy using a lateral approach at the level of the thigh. The histopathological result supported the diagnosis of melorheostosis. Additionally, immunohistochemical tests completed the data obtained after the microscopic examination through the classic histopathological technique The patient was discharged and included in a full medical recovery program for eight weeks in a specialized medical center, during which she also received analgesic treatment in maximum doses, but without improvement regarding her symptoms. Taking into account the chronic evolution of the pain, the complete lack of response to conservative treatment after eight weeks, and the lack of treatment guidelines in the case of melorheostosis, a surgical approach needed to be considered. The surgical option in this case, considering the circumferential location of the lesion at the level of the femoral diaphysis, was a radical resection. The surgical approach consisted of segmental resection to healthy bone tissue and reconstruction of the remaining defect with a modular tumoral prosthesis. At the 45-day postoperative control, the patient no longer complained of pain in the operated-on limb and was mobile with full support without gait difficulties. The follow-up period was one year, and the patient presented complete pain relief and a very good functional outcome. Results: In the case of asymptomatic patients, conservative treatment seems to be a good option with optimal results. However, for benign tumors, it remains unclear whether radical surgery is a viable option. Conclusions: Melorheostosis remains an incompletely understood disease, given the limited number of cases worldwide, and thus, there is a lack of clinical guidelines regarding specialized treatment.