Rare bone disorder affecting the temporal bone

Fibrous dysplasia is an uncommon benign disorder of unknown etiology. Rarely, it presents isolated in the temporal bone. We present three cases of monostotic fibrous dysplasia that involved the entire temporal bone.     

骨纤维异常增殖症的临床分析

目的探讨骨纤维异常增殖症的临床特征、诊断及治疗原则。方法对19例骨纤维异常增殖症的临床资料、影像学及病理学特点综合分析,结合临床手术术式及术后随访情况进行讨论。结果骨纤维异常增殖症好发于青少年,多位于胫骨及肋骨,临床主要表现为局部肿胀、疼痛或骨折;影像学表现为囊性、磨砂玻璃样或丝瓜络样、虫蚀状改变;组织形态学观察,正常骨结构消失,被增生的纤维组织或由不同比例的纤维性及骨性成分所取代,骨小梁排列紊乱,纤维细胞梭形,罕见核分裂像;临床术式多采用刮除或局部广泛切除。结论骨纤维异常增殖症预后良好,结合影像检查及病理检查结果可明确诊断,临床多采用局部广泛切除。     

神经导航技术外科治疗颅骨纤维异常增生

目的 评价神经导航技术在外科手术治疗颅骨纤维异常增生中的作用和效果,并讨论颅骨纤维异常增生患者的视神经减压手术的适应证。方法 采用经颅视神经管减压手术治疗15例颅骨纤维异常增生导致视力下降的患者,其中男6例,女9例;年龄5～21岁,平均10．3岁。回顾性分析病变部位、症状、体征、CT影像特点、手术方法和结果。将患者视力分为完全丧失、光感、眼前手动、眼前指数和可辨视力表5个级别。提高一个级别或者视力表检查提高0．1为有效,视野缺损的改善也为有效。结果 颅骨纤维异常增生常侵犯额骨、蝶骨体、颧弓、蝶骨大翼和小翼及筛骨,并导致视神经管和眶上、下裂狭窄。主要症状表现为视力下降、突眼和额眶部隆起。手术15例,其中单侧眶上壁、视神经管减压术13例,双侧眶上壁、视神经管减压术2例。全部病例均经病理证实为颅骨纤维异常增生。术后随访3个月至2年1个月,平均11个月,有效为11只(65％),无变化为6只(35％),无视力下降及其他副损伤者。结论 经颅视神经管减压手术是治疗颅骨纤维异常增生引起的视力下降的有效方法,早期手术效果明显,视力低于0．1者提高视力可能性小。但视神经由于压迫移位,用神经导航技术能提高手术的安全性。     

Fibrous dysplasia on the skull

A young rickshaw puller admitted in Neurosurgery ward of Mymensingh Medical College Hospital due to ugly looking skull swelling on right side and iatrogenic ulceration on the postero-superior surface of the swelling. He also mentioned that he was not socially well-excepted and facing difficulty in getting married for that ugly lesion and was very unhappy at that time. CT scan was suggestive of fibrous dysplasia of skull bone and no other abnormalities were present on other part of the body. Then complete excision of the mass was done and fibrous dysplasia was confirmed by histopathological study. Two months after surgery he got married and expressed his happiness. In fibrous dysplasia, normal bone is replaced by fibrous connective tissue with varying degrees of osseous metaplasia. It is a benign disorder of bone commonly seen from childhood to the third decade. Virtually any bone in the body can be affected. Regarding investigations, plain radiography in the first line study. CT may be required to assess complex region such as the spine, pelvis, chest and facial skeleton. Histologically, fibrous dysplasia appears as multiple areas of fibrous tissue contained within islands of bone with evidence of both blastic and clastic activity.     

骨的纤维结构不良克隆性分析

目的：检测 FD 病变的克隆性起源,探讨其病变的性质。方法：采用基因组 DNA 抽提、PCR 扩增及基因扫描的方法分析 FD 的克隆性。结果：在80例 FD 中,其中30例 FD 的 HUMARA 基因 DNA 扩增成功。基因扫描分析成功的10例 FD 中,2例 FD 为纯合子,5例 FD 为单克隆,3例 FD 为多克隆。结论：FD 是一种单克隆性的病变。结合我们前期的实验研究（2例 FD 的 GNAS1基因突变及1例 FD 恶变）提示 FD 是由于多种因素共同作用导致的骨发育成熟障碍的良性肿瘤性病变。     

Operative Treatment by External Fixation for Polyostotic Fibrous Dysplasia in The Elbow Joint.

Fibrous dysplasia is a condition in which normal skeletal bone changes into fibroblastic stroma and immature bone. We report our experience of a unilateral external fixator applied for the treatment of polyostotic fibrous dysplasia arising in the elbow. The patient was a 38 year-old man. His main complaint was left elbow pain and a mass, which increased in size. The histological diagnosis from the needle biopsy was fibrous dysplasia. An articulated unilateral external fixator was used for immobilization. The lesions in the left distal humerus and proximal ulna were curetted and cancellous bone was packed into the cavity. An external fixator (Elbow Fixator, Orthofix Inc., McKinney, USA) was applied from the proximal humeral shaft to the distal ulnar shaft for postoperative tentative immobilization and preservation of the affected elbow joint movement. At two years after the operation, the range of motion of the affected elbow was 90 degrees in flexion and -35 degrees in extension. The range of motion in pronation and supination of the left forearm was normal. No evidence of recurrence was noted at two years after surgery. The merits of using an external fixator were: an earlier start of range of motion exercises, and a decrease in the risk of tumor dissemination.     

Operative treatment by external fixation for polyostotic fibrous dysplasia in the elbow joint. A case report

Fibrous dysplasia is a condition in which normal skeletal bone changes into fibroblastic stroma and immature bone. We report our experience of a unilateral external fixator applied for the treatment of polyostotic fibrous dysplasia arising in the elbow. The patient was a 38 year-old man. His main complaint was left elbow pain and a mass, which increased in size. The histological diagnosis from the needle biopsy was fibrous dysplasia. An articulated unilateral external fixator was used for immobilization. The lesions in the left distal humerus and proximal ulna were curetted and cancellous bone was packed into the cavity. An external fixator (Elbow Fixator, Orthofix Inc., McKinney, USA) was applied from the proximal humeral shaft to the distal ulnar shaft for postoperative tentative immobilization and preservation of the affected elbow joint movement. At two years after the operation, the range of motion of the affected elbow was 90 degrees in flexion and -35 degrees in extension. The range of motion in pronation and supination of the left forearm was normal. No evidence of recurrence was noted at two years after surgery. The merits of using an external fixator were: an earlier start of range of motion exercises, and a decrease in the risk of tumor dissemination.     

颞骨肿块的HRCT诊断与鉴别诊断

目的研究颞骨肿块的HRCT表现和临床意义。方法回顾性分析16例经手术病理或临床证实的颞骨肿块的HRCT表现。结果骨纤维异常增殖症4例,颈静脉球瘤3例,骨软骨瘤、嗜酸性肉芽肿、外耳道癌和骨瘤各2例,粘液瘤1例,HRCT表现各具特征。结论HRCT扫描能清晰显示颞骨肿块的形态、密度和范围,结合临床和其他检查有助于定性诊断,为临床治疗提供依据。     

Craniofacial fibrous dysplasia: an update

Fibrous dysplasia was first described by Lichtenstein in 1938 as a disorder characterized by progressive replacement of normal bone elements by fibrous tissue. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Its compression of the optic nerve with resulting visual impairment is especially alarming. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments. Its characteristics, under various imaging modalities, have been thoroughly described in recent years. These developments have taken place with the goal of optimizing treatment of those who suffer from this disease. However, the role of prophylactic optic nerve decompression in cases of optic canal involvement has recently been challenged: the results of a few recent studies have raised questions regarding its role. Further studies would be required to assess its value.     

Unusual manifestations of craniofacial fibrous dysplasia: clinical, endocrinological and computed tomographic features.

Clinical, endocrinological and computed tomographic features of three patients with unusual manifestations or complications of craniofacial involvement of fibrous dysplasia are presented. One patient with polyostotic fibrous dysplasia presented in late pregnancy with acute onset of bilateral optic nerve compression and blindness secondary to a rapidly expanding mass of fibrous dysplasia tissue involving the sphenoid, pituitary and optic chiasm regions. A second patient with polyostotic fibrous dysplasia developed thyrotoxicosis and probable gigantism/acromegaly in keeping with a rare form of McCune-Albright syndrome. Extensive bony distortion of the skull and facial bones by fibrous dysplasia made clinical recognition of these complications more difficult. A third patient had monostotic fibrous dysplasia with marked sclerosis of the sphenoid bone on plain radiographs which mimicked appearances of a meningioma and resulted in a negative craniotomy as computed tomography was not yet available at the time of presentation. Each case demonstrated rare complications of craniofacial fibrous dysplasia and highlighted the wide spectrum of appearances in which it may manifest, often resulting in overlap and diagnostic confusion with other disease processes. The value of computed tomography in assessment is emphasized.     

骨纤维结构不良中癌基因产物c-fos的表达

目的：探讨骨纤维结构不良的发病机理。方法：应用免疫组化ＡＢＣ法研究３７ 例骨纤维结构不良中ｃ ｆｏｓ的表达情况。结果：实验组中单发型３１ 例、多发型６ 例；病灶周围骨组织９ 例及正常皮、松质骨１１ 例共２０ 例作对照组。３７ 例中ｃ ｆｏｓ 阳性表达３５ 例，与对照组相比差异有显著性（ Ｐ＜ ０－０１） 。单发与多发型的阳性表达率差异无显著性（Ｐ＜ ０－０５）。结论：ｃ ｆｏｓ 癌基因的过度表达在骨纤维结构不良的发生发展中起重要作用。     

阿伦膦酸钠治疗23例骨纤维结构不良的临床观察

目的探讨阿伦膦酸钠治疗骨纤维结构不良的临床疗效。方法选取我院骨科2009年7月至2012年7月诊治的骨纤维结构不良患者23例,给予口服阿伦膦酸钠70 mg每周1次维持治疗,连续服用1年以上。观察治疗前及治疗6个月、12个月以后患者疼痛、病变部位X线表现及阻射密度、生化指标（ALP）的变化。结果 23例骨纤维结构不良患者经阿伦膦酸钠治疗后,疼痛症状明显改善：显效18例、有效4例、无效1例,总有效率95.63%。19例患者病变部位X片检查发现病损区密度增高、骨皮质增厚及溶骨区域出现明显钙化沉积并且大小未见继续扩大。2例X片检查发现病损区无任何变化。1例病损区有进行性发展的趋势,总有效率82.64%,骨病损区X线平均阻射密度较前明显升高（P〈0.05）。治疗前后血清ALP明显降低,治疗前ALP为（110.25±3.21）U/L;治疗后为（40.35±3.17）U/L,差异有统计学意义（P〈0.05）。结论阿伦膦酸钠可有效抑制骨吸收,促进骨生成,从而抑制骨纤维结构不良的病情发展。     

FIBROUS CORTICAL DEFECT RADIOLOGIC ANALYSIS OF 6 CASES

Fibrous cortical defect (FCD) is a local disturbance of ossification, more commonly seen in metaphysis of tubular bones of growing children, with predilection site around the knee joint. The roentgenographic appearances of 6 patients with FCD were characterized by an eccentric round or oval-shaped translucent area with lobulated sclerotic border, and the normal surrounding bone. The bony cortex was characterized by a superficially depressed defect which disappeared spontaneously and was labile. Multiple lesions were usually symmetric. Some patients had familial tendency.     

Sudden death of a young female patient. A case of arrhythmogenic right ventricular dysplasia

Arrhythmogenic right ventricular dysplasia ARVD is a disorder which is characterized by replacement of right ventricular myocardium by fat and fibrous tissue. Although it generally causes arrhythmias originating from the right ventricle, sudden deaths might be seen. A 30-year-old woman with no previous symptoms of a particular disorder was found dead in her house. The organs of her body were sent to the pathology department after the autopsy was carried out by the Department of Forensic Medicine of Adnan Menderes University, Aydin, Turkey. Grossly, the heart weight was within the normal limits. Nonetheless, it was detected that the right ventricle wall was thinned remarkably and had yellow color. In the microscopic examination, it was observed that myocardium was replaced mostly by fat and fibrous tissue. The other sections of heart were normal. This lesion was diagnosed as ARVD and suggested as the cause of death.     

颅面骨纤维异常增殖症13例临床分析

目的：研究颅面骨纤维异常增殖症（Ｆｉｂｒｏｕｓｄｙｓｐｌａｓｉａ）的诊断及治疗,复发和恶变。方法：总结１３例颅面骨ＦＤ的临床资料并结合文献分析。结果：１３例颅面骨ＦＤ临床表现为无痛性渐进肿块,ｘａｙ表现有毛玻璃型和硬化型。治疗以手术切除病灶,改善畸型和功能障碍,１３例中复发３例,恶变２例。结论：颅面骨ＦＤ诊断应临床、影像学、病理相结合。治疗以保守性手术为主。ＦＤ可复发和恶变,放疗无助于预防复发,反而刺激恶变。     

人成骨肉瘤及骨纤维结构不良组织p53,p16及Rb表达的意义

目的：探讨人成骨肉瘤组织、成骨肉瘤细胞系（ＯＳ－９９０１）及骨纤维结构不良组织中突变型ｐ５３,ｐ１６及Ｒb基因的表达及意义。方法：采用免疫组织化学ＡＢＣ方法对６ ０例成骨肉瘤标本、一株成骨肉瘤细胞系及１４例骨纤维结构不良组织中ｐ５３,ｐ１６及Ｒb基因的表达进行检测。结果：ｐ５３,ｐ１６及Ｒｂ基因的表达进行检测。结果：ｐ５ ３,ｐ１６及Ｐb基因在上述两各组织中均一阳性率各异。在６０例骨肉瘤标本中的阳性表     

Mondini畸形伴脑脊液耳漏2例临床分析

目的:探讨Mondini畸形伴脑脊液耳漏的临床表现及外科手术方法,提高对其临床特征的认识。方法:分析2例Mondini畸形患者的临床特征、影像学表现及手术情况并进行文献复习。结果:Mondini畸形伴脑脊液耳漏患者,常以反复发作的脑膜炎为主要症状,易误诊,尤其是单侧畸形,因对侧听力正常,常易漏诊。2例患者皆一次手术修补成功,随访至今无脑脊液漏或脑膜炎复发。结论:反复发作不明原因的脑膜炎患者应考虑先天性内耳畸形的可能,颞骨薄层CT扫描与MRI检查是确诊的主要手段,鼓室探查修补术是填补漏口的有效方法。     

大段同种异体辐射冻干骨移植治疗儿童胫骨纤维结构不良(附3例报告)

目的:探讨大段同种异体辐射冻干骨移植在儿童胫骨纤维结构不良治疗中的临床疗效。方法:本组3例患儿均采用手术切除病灶区,各形成13×2cm,10.5×1.5cm,9.5×2.0cm的缺损区。根据缺损处形状、大小将大块同种异体辐射冻干骨加工后植入缺损区并用骨钉固定。术后小腿前后石膏夹板固定14月,14月后去夹板行走,随访2年。结果:3患儿术后2周均有局部组织轻微红肿,体温-过性升高,术后X线片检查显示1～2月宿主骨同移植骨交界处有骨痂生长,3～5月宿主骨同移植骨融合,11个月内移植骨爬行替代完成。2例术后随访2年无复发,1例术后随访至今无复发(1年)。结论:大段同种异体辐射冻干骨移植是一种治疗儿童胫骨纤维结构不良的有效手段。它有利于病灶区的彻底清除,术后排斥反应轻、骨融合快、无复发。     

视神经管减压术在颅眶骨纤维异常增生症中的应用

目的回顾性分析36例经颅显微视神经管减压术治疗因颅眶骨纤维增生症致视神经管狭窄和视力损害的患者的临床疗效。方法采用内分泌检查、眼科学检查以及影像学检查,对本组患者进行术前评估,手术采取经颅显微视神经管减压术。结果本组患者术后病理均为骨纤维异常增生症。本组患者均行三维螺旋CT骨窗位检查,21例单侧视神经管狭窄,15例双侧视神经管狭窄。18例行MR I检查,多数病变位于前中颅底,增强后呈中、轻度强化。本组患者均获得3个月至7年的有效随访,平均38个月。术后1周20侧(19例)术后视力较术前改善,21侧(15例)术后视力稳定在术前水平,2侧(2例)术后出现视力恶化。术前失明组均没有视力改善。术后长期随访(>1年)视力改善和稳定组中,分别有1例和3例出现视力恶化。结论经颅显微视神经管减压术对于治疗额-眶骨纤维增生症致视力障碍的患者中期治疗疗效满意。     

A two- stage surgery for severe femoral neck deformity due to fibrous dysplasia: a case report

Various kinds of surgical treatments have been reported for varus deformity of the proximal femur due to fibrous dysplasia. We report a case of two-stage corrective osteotomy for severe varus-retroversion deformity of the femoral neck due to monostotic fibrous dysplasia. The patient was an 18 year-old man. On initial examination, the spina malleollar distance was 88 cm on the right side and 83 cm on the left. Plain radiography showed prominent varus deformity of his left proximal femur. The morphology was 130 degrees on the right side and 85 degrees on the left. Computed tomography revealed 60 degree retroversion of the femoral neck. A two-stage surgery was performed, consisting of curettage and bone grafting followed by corrective osteotomy 16 months later. A 55 degree valgus osteotomy was performed in the subtrochanteric region. After osteotomy and 40 degree internal rotation of the shaft, a 130 degree angle plate was used for osteosynthesis. Postoperative radiological examination showed a morphology of 140 degrees and computed tomography revealed a 20 degree retroversion of the femoral neck. No recurrence or varus deformity was seen at four years after surgery. Although the leg length discrepancy was 2.5 cm, the patient had no difficulty in one foot standing and no restriction of ADL (activity of daily living). The well-known progressive varus Shepherd's crook deformity in the polyostotic form of fibrous dysphasia is associated with limb shortening, limping, and occasionally chronic fatigue fractures with disabling pain. Various kinds of surgical treatments have been reported for this type of varus deformity. Curettage and bone grafting is one of the most common and simple treatments. However, this method often gives bad results as the grafted bones are absorbed and that the progress of varus deformity van not to be prevented. We report a case of two-stage corrective osteomy forsevere varus-retroversion deformity of the femoral neck due to monostotic fibrous dysplasia.