46例颌面部骨纤维异常增殖症临床分析

目的：分析颌面部骨纤维异常增殖症（fibrous dysplasia，FD）的临床特点、影像学表现以及血清碱性磷酸酶（alkaline phosphatase，ALP）含量与临床相关因素的关系。方法：复习46例FD患者的临床资料并进行随访．测量分析FD患者单骨型、多骨型组和非FD患者对照组ALP的含量。采用SAS6．04软件包对数据进行方差分析。结果：46例患者，单骨型32例（69．6％），多骨型14例（30.4％）。FD在影像学上多无清晰边界，多见毛玻璃样型。复发病例11例．多发生于青春期之前。多骨型组术前血清ALP含量为（257．9±218.0）U／L，显著高于对照组的（58．5±31．3）U／L和单骨型组的（100．0±49．8）U／L。1例行上颌骨全切术＋赝复体修复，3例行下颌骨病变切除＋血管化腓骨肌瓣修复．1例行下颌骨病变切除＋血管化髂骨肌瓣修复，其余病例均行病变骨的修整术。术后随访4个月。4．9a，平均2．4a．所有伤口愈合良好，11例复发病例再次治疗后未见复发。结论：FD是一种纤维骨性病变，颌面部为其好发部位之一。此病无明显性别差异，血清ALP升高可能与FD病变的范围相关。可根据患者的具体情况选择不同术式，手术宜在青春期后进行。     

30例颌面部骨纤维异常增殖症诊治的临床分析

目的：总结颌面部骨纤维异常增殖症（fibrous dysplasia,FD）的临床特征、诊断和治疗经验。方法：对30例FD临床表现、X线影像学诊断和治疗进行回顾分析,并通过随访观察手术效果。结果：本病多发于青少年,病程较长,发育成熟后大多病例可停止发展。本组30例患者中20岁之前发病者占83.3%。根据临床和X线平片检查,单侧下颌FD10例;单侧上颌骨、颧骨和上颌骨、额骨、颞骨、顶骨、腭骨、蝶骨FD共23例（含上颌下颌同时发病者3例）。X线分型毛玻璃型14例（46.6%）,囊样型与硬化型各4例（13.3%）,混合型8例（26.6%）。全部病例均行铲除或磨削术,伤口一期愈合。随访2～5年,效果满意21例,较满意5例,不满意4例,满意度为86.7%。结论：对未成年患者应定期临床X线和核素检测观察。主张保守性手术治疗,力荐微创磨削术。     

复发性成釉细胞瘤的临床、影像学回顾性分析研究

目的：探讨复发性成釉细胞瘤（Recurrent ameloblastoma,RAB）的临床及影像学表现,为其诊断及治疗提供依据。方法：回顾我院1991～2008年收治的具有完整病例资料的35例RAB病例,进行Gardner分型和初次手术治疗方式的统计学分析;对23例颌骨内RAB的Gardner分型和X线分型进行分析统计;对21例行颌面部CT检查病例的影像学表现进行分析总结。结果：Gardner分型中实质型RAB最多共24例（68.6%）,软组织内RAB有12例（34.3%）;颌骨内RAB最多的X线分型多房伴蜂窝型共8例（22.9%）,CT影像可以清晰的显示成釉细胞瘤的边界、密度、形状、范围及对周围组织的累及情况。结论：成釉细胞瘤的生物学行为及术式是术后复发的主要原因;RAB易出现软组织复发及表现为多囊伴蜂窝型的X线分型;CT对RAB尤其是软组织复发成釉细胞瘤有很好的诊断价值。     

老年人口腔颌面部肉瘤33例临床分析

目的：探讨老年人口腔颌面部肉瘤的临床特点及预后。方法：收集2000—2009年治疗的33例老年人（〉60岁）口腔颌面部肉瘤病例进行回顾性分析。利用SPSS12.0软件包进行统计学分析,预后影响因素采用χ2检验。根据随访资料,采用乘积极限法统计生存率。结果：33例患者中,男23例,女10例。平均年龄71岁（61～88岁）,平均随访时间21个月（3～83个月）。随访患者29例,失访患者4例,随访率为87.88%。随访患者中,原发病例20例,因肉瘤复发就诊（复发病例）9例。随访病例均经手术治疗,其中单纯手术治疗12例,术后辅助放疗9例,术后辅助放化疗8例。经χ2检验,单纯手术治疗组和术后辅助放化疗组对预后有显著影响（P〈0.05）。原发病例中,术后局部复发11例,复发率55%。复发病例中,7例术后出现复发,2例出现远处转移。随访病例中,1年生存率为69%,3年生存率为40.8%,5年生存率为25.4%。单纯手术治疗组和术后联合放化疗组的生存函数采用Logrank检验进行比较,差异具有显著性。结论：手术是治疗老年人口腔颌面部肉瘤的主要手段。根治性手术联合术后放化疗对改善老年肉瘤患者的预后可能有益。     

5年13例颌面部孤立性纤维瘤的回顾性研究

目的通过对颌面部孤立性纤维瘤这一罕见疾病的临床病例回顾性分析,探讨颌面部孤立性纤维瘤的诊断要点与治疗原则。方法 2009至2014年间,对收入上海交通大学医学院附属第九人民医院口腔病理数据库的颌面部孤立性纤维瘤进行统计,收集临床资料,影像学资料及诊疗方法进行分析。结果共有13例患者入选研究,临床特征无特异性,CT表现为强化明显的肿物,术后病理均为颌面部孤立性纤维瘤,免疫组化CD34、Vim均为(+),Des均(-)。术后创口均一期愈合,未见明显并发症。随访3~60月,发现2例恶性孤立性纤维瘤患者出现复发情况,再次行手术治疗后,随访未见复发情况。结论颌面部SFT是一种罕见的疾病,最终确诊需依靠病理学及免疫组化检查。首选手术治疗,术后密切随访,预后较好。     

复发性成釉细胞瘤的临床、影像、病理学分析

目的对复发性成釉细胞瘤（RAB）的临床、影像、病理学进行综合分析,为其诊断和治疗提供依据。方法对南京大学口腔医院1996年1月-2008年3月收治的具有完整病例资料的23例RAB患者的临床资料进行总结,并进行影像学和病理学分型。结果23例RAB患者中,有20例复发1次,3例复发2次,共复发26次。23例患者中,19例首次手术治疗采用刮治术,4例首次手术治疗采用根治术;复发后4例患者采用刮治术,19例患者采用根治术。26例次RAB的影像学分型：12例次为多房型,6例次为单房型,8例次为外周型;病理分型：21例次为滤泡型,5例次为丛状型。刮治术后复发者以多房型最多（11例次）,根治术后复发者以外周型最多（8例次）。结论刮治术后成釉细胞瘤复发率明显高于根治术后;滤泡型成釉细胞瘤浸润性较强,易于复发。     

基于锥形束CT和螺旋CT的成釉细胞瘤影像学表现对比研究

目的    应用锥形束CT（cone-beam CT,CBCT）和螺旋CT（spiral CT,SCT）对比分析成釉细胞瘤的影像学表现及分型,为临床选择合适的影像学检查提供依据。方法    收集2018年1月至2019年12月就诊于南京大学医学院附属口腔医院的49例成釉细胞瘤患者的临床及影像学资料行回顾性分析。根据术前影像学检查方法,将所有患者分为CBCT组（21例）和SCT组（28例）,分析两组影像学表现和分型,记录术后复发情况,并计算影像学分型与病理学分型符合率（以下简称“病理符合率”）。结果    SCT组有单房型7例、多房型（可伴蜂窝）17例、骨外/外周型4例,其与病理学分型完全一致,病理符合率为100% ;CBCT组有单房型10例、多房型（可伴蜂窝）11例、骨外/外周型0例,但单房型中有5例的病理学分型为实性/多囊型,病理符合率为76.19% 。两组病理符合率比较,差异有统计学意义（P = 0.007）。术后2年内,CBCT组有3例患者复发,均为术前影像学分型与病理学分型不一致的行刮治术的患者;SCT组患者均无复发。结论    与CBCT相比,SCT可以对成釉细胞瘤进行更加精准分析和分型,为治疗方案的制定及预后的判断提供更多信息和依据。     

口腔颌面部朗格汉斯细胞组织细胞增生症30例临床分析

目的：探讨口腔颌面部朗格汉斯细胞组织细胞增生症的临床特点及治疗方法。方法：采用病例回顾性研究方法,对30例口腔颌面部朗格汉斯细胞组织细胞增生症病例的临床表现、治疗和预后进行分析。以1997年wH0的临床分型为依据,采用以切除术或刮治术为主的治疗方法,病变累及范围较广者,辅以放疗和（或）化疗。对12例患者的随访结果进行分析。结果：男18例,女12例,中位年龄8岁;66．7％的病例病变累及下颌骨。影像学主要表现为骨组织破坏和软组织侵犯。对病变局限的14例患者采用单纯手术治疗;病变范围较广、累及骨外软组织的6例患者,采用手术加术后放疗;对有明显全身症状的5例患者,采用手术配合化疗。随访的12例患者中,无病生存10例。结论：口腔颌面部朗格汉斯细胞组织细胞增生症有一定临床特点．采取相应的治疗方法．预后较好。     

93例颌面部骨纤维异常增殖症的X线研究

对93例经病理证实的颌面部骨纤维异常增殖症(FD)的X线片分析结果表明:单骨性FD与多骨性FD的发病年龄和病变部位均有较明显差别,单骨FD有半数以上可以在X线片上看到病变的边缘,其中大多数患者甚至可以看到不连续的边缘硬化带,但多骨FD这一现象罕见。颅底骨硬化是多骨FD的特征性表现之一。单骨FD中下颌骨病变混合型和囊样型占相当比例,而多骨FD下颌病变者囊样型较少。     

自体移植骨段上复发的成釉细胞瘤-临床及影像学分析

目的 分析自体移植骨段上复发的成釉细胞瘤临床和影像学特点。方法 收集自1958-2004年就诊于北京大学口腔医学院的6例自体骨移植段上复发的成釉细胞瘤，进行了临床及影像学分析。6例均原发于下颌骨。手术中分别采用了自体肋骨或髂骨移植。结果 复发时间最短4年，最长38．5年，平均24．4年。4例复发时无特殊的临床表现，1例植骨区有轻度膨胀，另1例表现为植骨区软组织外突肿物增长迅速。6例均病理证实为成釉细胞瘤复发，其中1例部分恶变。影像学表现为：①多房型：房室大小相差不多3例，呈蜂窝样l例，房室大小相差悬殊破坏广泛有多房遗迹1例；②单房型1例。结论 成釉细胞瘤可以在植骨术后很长时间于移植骨段上复发，因此进行长期X线复查是必要的。复发病变在影像表现上与原发成釉细胞瘤类似。     

A case of isolated craniofacial fibrous dysplasia – Radiologist's perspective

Fibrous dysplasia is a disease characterized by replacement of bone by fibro osseous tissue. FD has four different disease patterns. They are monostotic, polyostotic and McCune–Albright syndrome. Craniofacial pattern of disease occurs in 10–25% of patients with monostotic form and in 50% with polyostotic form. It also occurs as isolated craniofacial form. In isolated variety no extracranial lesions are present. Radiographic diagnosis plays an important role in diagnosis, classification and assessing prognosis of fibrous dysplasia. In this paper we report a case of isolated craniofacial type of fibrous dysplasia in a young female patient involving the maxilla and skull bones with a complete radiographic CT assessment of the extent of the lesion. Temporal bone involvement and bilateral lesion in certain cranial bones are the rare findings noted in this case.     

Fibrous dysplasia of bone: craniofacial and dental implications

Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune–Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.     

Clinical characteristics of craniomaxillofacial fibrous dysplasia

BackgroundThe clinical characteristics of craniomaxillofacial fibrous dysplasia (FD) have not been clearly identified. The objective of this meta-analysis is to assess the predominance of the monostotic form of FD using an evidence-based review. Furthermore, we examined the laterality and sex dominance of FD in patients from international study populations.MethodsWe performed a systematic search of PubMed, Embase, Cochrane Central Register of Systematic Reviews, Cochrane Central Register of Controlled Trials and EBSCO for trials published through August 2013. Data extracted from the literature were analysed with Review manager 5.0.24.ResultsThe results of this study showed that unilateral FD occurred more frequently than bilateral FD (RR, 12.37; 95% CI, 2.92–61.24; P = 0.008, N = 263 patients). For unilateral FD, there was no significant difference between cases involving the left or right side of the face (RR, 0.98; 95% CI, 0.66–1.44; P = 0.91; N = 201 patients). There were no significant sex-dependent differences for monostotic and polyostotic forms of craniomaxillofacial FD.ConclusionThere is a significantly higher percentage of the unilateral form than the bilateral form in the craniomaxillofacial FD studies analysed, and an almost equal distribution of left- and right-sided unilateral FD. These proportions were maintained among males and females and there were nearly equal frequencies of monostotic and polyostotic FD.     

Craniofacial Fibrous Dysplasia in an Elderly Patient: A Case Report with a Review of Literature

Fibrous dysplasia is a benign fibro-osseous disorder, characterized by fibrous connective tissue containing abnormal bone which replaces normal bone. It represents 2 to 5% of all bone tumors and 7% of all benign tumors. Most commonly it affects younger age groups, with a higher prevalence in the maxilla than the mandible. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia can involve multiple bones (polyostotic) or a single bone (monostotic). The lesions of fibrous dysplasia can be surgically recontoured for esthetic or functional purposes once the growth ceases. Here we report a case of craniofacial fibrous dysplasia in an 83-year-old elderly male patient with emphasis on radiographic features.     

Fibro-osseous lesions of the jaw and facial bones: a clinico-histologic-radiologic study of 138 cases

A clinical-histologic-radiologic study of 138 cases of fibro-osseous lesions of the jaw and facial bones is presented. In this series, all were monostotic lesions except 8 polyostotic fibrous dysplasia. In the 130 monostotic lesions, 59 occurred in maxilla, 66 in mandible, 4 in zygoma and one in ethmoid bone. Clinically, a painless enlargement of the involved bone was the main sign. Histologically, these lesions were composed of proliferating fibrous connective tissues and various amounts of calcified tissues, but different lesion has different feature. Radiologically, fibrous dysplasia was characterized by lesions with diffuse blending. The other three tumors including ossifying fibroma, cementifying fibroma and fibro-osteoma were all represented by lesions with well delineated borders. In this article, Diagnosis of the fibro-osseous lesions and some questions about fibro-osteoma of the jaw and facial bones and osteofibrous dysplasia of long bones are discussed.     

Investigation of the GSalpha gene in the diagnosis of fibrous dysplasia

Fibrous dysplasia is a benign fibro-osseous disease of bone and its etiology has been previously established. Activating mutations in the gene that encodes the alpha subunit of stimulatory G protein (G(S)alpha) has been described in monostotic and polyostotic fibrous dysplasia and in the McCune-Albright syndrome. The present report describes a patient with monostotic fibrous dysplasia which diagnosis was confirmed by sequencing of the G(S)alpha gene, demonstrating a heterozygous missense mutation on codon 201 (201C --> T). Due to the high prevalence of G(S)alpha gene mutations in fibrous dysplasia in contrast to other benign and malignant fibrous-osseous lesions, mutational analysis are an additional and helpful parameter for the diagnosis of fibrous dysplasia in selected cases.     

Fibrous dysplasia imitating malignancy

Fibrous dysplasia is a benign bone disease, presenting as monostotic or polyostotic lesions, or as part of a syndrome (McCune-Albright/Mazabraud). Its clinical course shows a variegated picture and the progression of its growth is unpredictable. In the workup of 39 fibrous dysplasia cases in the cranio-facial area, four cases presented fast growth tendencies, of which two patients with McCune-Albright syndrome showed malignant-like rapid growth. This local aggressive form is extremely rare, and the concept of this issue has not been clearly defined. With regard to the speed of growth a volumetric-time analysis in one of our cases demonstrated a 74 days tumor doubling rate with an exponential growth curve. According to the literature the aggressive form presented extra-cranially mainly at an adult age, whereas its appearance in our cranio-facial patient collective was much younger. Distinguishing nonmalignant and malignant aggressive forms is difficult and highly inconsistent in the literature. We therefore implemented a quantitative growth measure analysis to define aggressive forms based on progression and speed of growth and impartial of type of FD, localization or functional incapacity. Due to our study findings and literature review we state a prevalence of an aggressive form might be possibly about 5 %.     

颌骨骨纤维异常增殖症骨髓间充质干细胞Gsα基因突变分析

目的:探索对颌骨骨纤维异常增殖症(FD)患者骨髓间充质干细胞(BMSCs)的Gsα蛋白编码基因位点进行突变分析的方法。方法:颌骨FD患者经X线及组织病理学确诊后,术中取组织标本进行骨髓间充质干细胞原代培养,提取细胞DNA,通过巢式PCR及酶切等方法,将突变基因扩增,并进行基因序列测定。结果:颌骨FD患者BMSCs中,Gsα第201位氨基酸的编码基因突变(G→A或C→T),造成第201位氨基酸由精氨酸→组氨酸或精氨酸→半胱氨酸突变。结论:颌骨FD患者BMSCs中Gsα蛋白第201位氨基酸编码基因位点存在特异性突变,巢式PCR是检测该突变的可靠方法之一。