一家族性巨颌症的临床病理分析

目的　分析一个巨颌症家系中的 4例巨颌症患者的临床病理学特征、手术方式及随访结果 ,旨在对巨颌症与颌骨其他巨细胞病变的鉴别诊断和手术时机的选择有所帮助。方法　对一个巨颌症家系中的 4例患者的遗传学、临床、影像、血液学、组织学、生物学特征、治疗方式与随访的资料进行分析。结果　巨颌症在临床上表现为双侧颌骨的无痛性肿大 ,常发生在下颌 ;在影像学上表现为边界清楚的多房性透射影 ;在病理学上 ,骨组织被增生的纤维组织代替 ,纤维结缔组织内血管丰富 ,多核巨细胞沿血管排列 ,伴或不伴嗜伊红物质环绕成袖口状 ;1例未进行治疗的患者 ,病变自然终止 ;其余进行手术治疗的 3例患者术后未见复发。结论　巨颌症可根据其典型的临床、影像学特征 ,结合家族史及病理学特征作出诊断。虽然它的生物学特征表明 ,青春期后病变会逐渐消退 ,但病变期进行手术治疗不仅可以改善患者的生理和心理功能 ,且病变不一定复发     

牙本质发育异常家系调查和表型分析

目的:调查和分析中国人牙本质发育异常家系及临床表型,进一步明确其诊断和分型。方法:采用先证者查证法调查和收集中国人牙本质发育异常家系,绘制系谱图,确定遗传方式,根据临床表现和X线征象特点对各家系受累个体进行表型分析。结果:共收集4个中国人牙本质发育异常家系,家系Ⅰ、Ⅱ、Ⅲ为常染色体显性遗传的Ⅱ型牙本质发育不全,家系Ⅳ先证者符合Ⅱ型牙本质发育不全诊断;临床表型在各家系及同一家系不同个体间存在异同。结论:独立发生于牙本质的各型遗传性牙本质发育异常存在共有表型,可作为同一类疾病研究。     

家族性巨颌症一家系调查报告

巨颌症(cherubism)又称家族性颌骨纤维异常增殖症或家族性颌骨多囊性病,该病于1933年由Jones首次报道。本文通过一家系3例巨颌症患者调查,论述该病的临床特征、病理学及影像学特点,为在非基因诊断条件下提高对该病的诊断提供依据。1临床资料1.1一般资料3例患者均为女性,年龄分别为13、34和23岁。1例双侧下颌肿大,颌骨无痛性膨隆,颜面部畸形,面     

颌骨骨纤维异常增殖症和骨化纤维瘤的临床及病理特征分析

目的探讨口腔颌面部骨纤维异常增殖症(fibrous dysplasia,FD)和骨化纤维瘤(ossifying fibroma,OF)的临床特征、影像学特征及病理特征,以提高临床诊断准确率。方法对我院1987—2011年间的骨纤维异常增殖症25例,骨化纤维瘤16例的临床资料、影像学资料和病理切片进行分析。结果本组病例中发病年龄两者无明显差异,FD平均22.56岁,OF平均28.25岁;前者的男女比为1∶1,后者为5∶3;发病部位两者均以上颌较多,分别为72.00%和62.50%,并且大多数都发生在磨牙区。X线片中FD病变透亮呈"毛玻璃状"边界不清,OF瘤界清楚,骨质有缺损破坏的阴影。病理组织学上FD中骨小梁呈多形态,不形成板状骨。OF的骨小梁有板状骨形成,但FD成熟型与OF在病理组织学上有相似性。结论 FD和OF是不同的独立疾病,明确其诊断,需结合临床、影像学及病理学进行综合分析。     

31例颌骨中心性巨细胞肉芽肿的临床病理研究

目的 观察分析颌骨中心性巨细胞肉芽肿(CGCG)的临床病理学特点及病变生物学行为问的关系，探讨颌骨CGCG的性质及诊断。方法 采用组织病理学方法，结合临床随访对比分析31例颌骨CGCG的临床病理学特点及其与病变性质的关系。结果 31例颌骨CGCG以30岁以下的女性多见，病变多见于下颌，X线表现无特异性。病变中的多核巨细胞(MGC)分布较不均匀，核数较少，以10～19个核多见，病变出血明显，纤维成分丰富，常有含铁血黄素沉积，骨及类骨质多见。比较病变复发组与非复发组问的临床病理学特点，结果提示差异无统计学意义。根据临床和X线特点病变分为侵袭组与非侵袭组，侵袭组与复发关系密切。结论 颌骨CGCG是一种非瘤性病变，在病变性质上有别于骨巨细胞瘤，其病理学特点在两者的鉴别上缺乏客观标准并且与其生物学行为无关，结合临床分析对治疗更加有意义。     

囊性造釉细胞瘤的X线特点

本文根据太平洋大学口腔病理实验室,口腔颌面X线诊断为囊性或单囊性造釉细胞瘤的31例病例,分析其X线表现。临床所见:发病年龄从14岁,平均为26.9岁,其中位平均值为21.5岁。男性20人,女性13人。白人占45%,黑人33%,拉丁美洲人12%,亚洲人10%。其种族分布符合旧金山海湾区的特点,没有明显的种族或人种差异。全部病例均位于下颌骨。具体分布为磨牙及升支区占77.4%,前磨牙及尖牙区占9.7%,12.9%在下颌正中联合部。其主要征象为下颌部局膨大,许多病例虽然已被X线照片发现,但没有明显的临床症状。 X线表现:囊性造釉细胞瘤的X线特征     

家族性巨大型牙骨质瘤家系临床分析

目的 分析总结家族性巨大型牙骨质瘤家系的临床特征。方法：对2013年发现的一个家族性巨大型牙骨质瘤家系的临床特点进行总结,采集家族中患者病史、临床表现、影像学和组织病理学资料,绘制家系谱,并结合相关文献,总结该家系的临床特点和遗传方式。结果：该家系4代共33人,患者13例,其中男8例,女5例。所有患病者均在11~13岁开始发病,14~16岁进入迅速增长期,18~20岁病变发展趋于停滞。发病时间集中在青春发育期,自限性明显。13例患病者中,8例有下肢长骨骨折病史,均集中出现在13~16岁,大多骨折3~4次,原因多为受到轻微外力。结论：该家族性巨大型牙骨质瘤家系符合常染色体显性遗传特征,根据其临床特征我们把病程分为3个时期：① 发病初期;② 迅速增长期;③ 生长停滞期。     

下颌体后部无症状边界不清的X线透射区

患者36岁,白种人。在作口腔常规检查时,从X线片上发现左侧下颌体有一边界不清的X线透射区。无症状,颊舌侧无明显膨胀。临床检查,牙及口腔未见明显异常。诊断:镜下见切除组织为脂肪和骨髓混合物。造血成份活跃,有广泛性出血。骨小梁松散、稀疏、不规则、缺乏末梢性成骨细胞。根据其组织病理学特点和X线片征象,诊断为下颌骨病灶性骨质疏松的骨髓缺损。特点:局部的骨结构改变多符合Wolff's法则,即骨小梁的数量及分布有赖于骨所承     

47例牙瘤临床及病理分析

目的：对牙瘤临床、X线表现、病理特征及预后进行分析。方法：收集47例牙瘤病例,对其临床表现、X线影像及病理特征等进行回顾性分析研究。结果：47例中男25例,女22例,平均16.5岁;病变位于下颌骨31例,上颌骨16例;牙瘤生长缓慢,早期无自觉症状,常因牙病摄X线片时被发现。X线特征是病变区有牙组织类似的强阻射影像,组织学表现为牙体组织结构,分为混合性牙瘤（30例）和组合性牙瘤（17例）两型。结论：牙瘤是一类可形成牙齿硬组织的牙源性非真性肿瘤,临床主要依赖X线诊断。可分为混合性牙瘤和组合性牙瘤两型。该瘤有自限性,手术摘除一般不复发,预后良好。     

良性成牙骨质细胞瘤12例临床病理分析

目的分析12例良性成牙骨质细胞瘤的临床病理特征。方法对12例良性成牙骨质细胞瘤分别从患者发病年龄、性别、发病部位、临床表现、X线特征,组织病理学表现及治疗方式等方面进行回顾性分析。结果12例良性成牙骨质细胞瘤患者,发病年龄13~58岁,平均33.8岁;好发于下颌骨(66.7%),后牙区较多见(91.7%);最常见的症状是颌骨膨胀(75%)和疼痛(25%)。X线片特征是:肿瘤与牙根关系密切;肿瘤中央区为高密度阻射影,周围为环状低密度透射影。组织学上表现为不规则排列牙骨质样物体附着于牙根,有明显的嗜碱性反折线形成。采用摘除肿瘤并拔除受累牙的治疗方式可治愈。结论良性成牙骨质细胞瘤好发于中青年,颌骨后牙区最常见,多表现为疼痛或颌骨膨胀,X线片特征与组织病理学表现结合有助于该肿瘤与骨母细胞瘤、化牙骨质纤维瘤和非典型骨肉瘤鉴别。     

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature

Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A panoramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Peripheral blood was collected from all participants and genomic DNA sequencing was carried out. Results: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. Conclusions: The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease. Key words:Cherubism, mandible, maxilla, SH3BP2, gene analysis, CBCT.     

Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta

The amelogenesis imperfectas (AI) are a diverse group of genetic disorders primarily affecting the quality and or quantity of enamel, however, affected individuals often have an open bite malocclusion. Three main AI types are recognized based on the perceived developmental mechanisms involved and the enamel phenotype. The purpose of this investigation was to evaluate the association of the AI enamel defect with craniofacial features characteristic of an open bite malocclusion. The sample consisted of 54 AI affected and 34 unaffected family members from 18 different kindreds. Lateral cephalograms were digitized and measurements evaluated for vertical plane alterations using Z-scores. Forty two percent of AI affected individuals and 12% of unaffected family members had dental or skeletal open bite malocclusions. Skeletal open bite malocclusion was variably expressed in AI affected individuals. The enamel phenotype severity did not necessarily correspond with the presence or severity of open bite malocclussion. Open bite malocclusion occurred in individuals with AI caused by mutations in the AMELX and ENAM genes even though these genes are considered to be predominantly or exclusively expressed in teeth. Affected AI individuals with cephalometric values meeting our criteria of skeletal open bite malocclusion were observed in all three major AI types. The pathophysiological relationship between AI associated enamel defects and open bite malocclusion remains unknown.     

一个巨颌症家系SH3BP2基因的突变检测

目的了解国内巨颌症致病基因的突变情况.方法对一个家系的10位成员进行外周血基因组DNA的提取;用聚合酶链反应结合DNA直接测序的方法进行SH3BP2突变检测.结果该家系中的6位直系成员均存在SH3BP2基因第9外显子的单碱基错义突变,为G1505C,导致编码第415位氨基酸的密码子由CGA替换为CCA,其编码的氨基酸由精氨酸（Arg）变为脯氨酸（Pro）.结论SH3BP2基因的单碱基突变是引起这个巨颌症家系的致病突变.该突变与国外一学者发现的突变完全相同.     

Cherubism - new hypotheses on pathogenesis and therapeutic consequences.

AIMS: The hereditary occurrence of cherubism indicates a probable genetic aetiology: a correlation with a mutation in the gene SH3BP2 has been demonstrated. A convincing concept of formal pathogenesis is not yet available. The study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study including genetic findings and an evaluation of the literature. RESULTS AND CONCLUSION: Because of its association with the development of the second and third molars, cherubism could be defined as a genetically determined alteration of tooth development. In this context, disturbed PTHrP - PTHrP receptor interaction induced by the mutation in SH3BP2 is discussed. The temporal and spatial determination of the clinical symptoms is explained by an interaction of SH3BP2-dependent signal transduction pathways with jaw morphogenesis (e.g. Hox-gene Msx-1). Because of the disease-induced lack of determination of the cap phase of the second and third molar, a spatial compartmentation, which is necessary for normal dental development, does not take place. This leads to dysregulation of mesenchymal bone building tissue areas, and to the development of giant cell granulomas with high osteoclastic activity. Because of the genetic determination of cherubism and the associated dedifferentiation of the diseased tissue, a surgical removal should be exclusively restricted to specific indications. Therefore an attitude of wait and see is preferred.     

先天缺指(趾)-外胚叶发育不良-唇/腭裂综合征的病例研究

目的：探讨先天缺指（趾）-外胚叶发育不良-唇／腭裂综合征（EEC）的临床表型和遗传学特点。方法：收集具有典型症状的EEC病例并进行家系问卷和口腔检查,观察各家系患者的临床表型和发病特点,分析可能的遗传方式,绘制系谱图。结果：研究收集的2个EEC病例均未追溯到明显家族遗传史,患者均表现出明显的双侧多个缺指（趾）,并指,唇／腭裂,家系2患者有毛发稀疏,指甲无光泽等明显外胚层发育不良表型,符合典型的EEC综合征。2名不同患者的严重程度存在明显差异。结论：收集的2个患者均属典型的散发EEC病例,临床的早期检查和正确诊断对后期治疗具有重要意义。     

Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature

OBJECTIVE: To clarify the relationships between the varying clinical or radiographic features of cherubism.Study Design: Nonparametric statistics were used in a long-term follow-up of 18 patients through 2 generations from 6 Danish families. RESULTS: The radiographic grade of cherubism was significantly related to sex, maximal buccal bone expansion, course of cherubism, and number of aplasia or ectopic impacted teeth, but it was not related to families. Normal dentition in nonaffected regions was present or was obtained in 14 of 14 patients (age, >14 years). Surgical treatment did not provoke growth of lesional tissue in 22 of 22 cases. Radiographically, the bone structure in the lesional areas was related to age in all grades of cherubism: new bone formation in radiolucent areas (age, >20 years), normal bone structure with multilocular sketches (age, 32 to 39 years), and completely normal bone structure (age, >41 years), also found in 7 of 7 carriers of cherubism (age, >32 years). CONCLUSIONS: This group analysis verifies the knowledge of cherubism previously based on cumulative reviews of findings in single-family and case reports.     

SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review

Cherubism is a disorder of bony overgrowth of the jaws that manifests in childhood. SH3BP2 gene variants have been associated with cherubism; this gene plays a major role in bone homeostasis. Due to its rare occurrence, there is as yet no comprehensive understanding of the natural history and clinical course of the disease. The aim of this review was to compile and analyze all cases of SH3BP2-related cherubism and cherubism-like disorders. Thirty publications were identified, including 92 individuals from 34 families, who were diagnosed with SH3BP2-related fibro-osseous lesions of the jaw. Only 15% of cases included in this review had no known family history of the disease. The distribution of cherubism was equal with respect to biological sex. Missing teeth were reported in 38% of cases. Lesions were restricted to the mandible in 36% of cases and involved both the maxilla and mandible in 54% of cases. The clinical phenotypes reported in the articles analyzed varied greatly in detail, making comparisons between studies and conclusive analysis difficult. Further work is necessary to describe the connection between SH3BP2 gene variants and cherubism in order to advance its diagnosis and treatment.     

The aggressive form of cherubism: report of two cases in unrelated families

Cherubism is a benign lesion that causes painless symmetrical enlargement of the jaws, usually with a familial tendency. We describe in two Chinese families two cases of the aggressive form of cherubism with extensive swelling on both sides of the mandible, typical microscopic findings, and apparent familial history.     

常染色体显性遗传性牙龈纤维瘤病的临床和遗传学特点分析

目的：探讨遗传性牙龈纤维瘤病(HGF)的临床表型和遗传学特点。方法：先证者法收集5个HGF家系并进行问卷和口腔检查，观察不同家系及同一家系不同个体的临床表型和发病特点，分析可能的遗传方式，绘制系谱图。结果：所有家系符合常染色体显性非综合征型HGF特征，发病年龄在牙齿萌出期，患者均有典型的牙龈增生，但不同个体其增生范围和严重程度有明显差异。龈切术可极大地恢复口腔功能和颜面外形，但部分病例在术后有复发倾向。结论：收集的5个家系均为非综合征型常染色体显性遗传HGF，且疾病外显率高，表现度变异大。