遗传性牙龈纤维瘤病（附2例报告）

目的通过探讨遗传性牙龈纤维瘤病（HGF）的临床特点及治疗方法,增进对本病的认识,从而提高诊断治疗水平。方法先证者法收集两个HGF家系全部成员资料,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,绘制系谱图,分析可能的遗传方式。对两名先证者采用手术治疗。结果两家系发病患者均符合非综合征型HGF特征。发病患者不同个体间的表现度不同。两家系均符合常染色体显性遗传特征。经随访,手术患者治疗效果良好。结论 HGF遗传方式以常染色体显性遗传为主,且同一家系的不同受累个体其增生程度轻重不一,极具差异,具有高度遗传异质性。手术是治疗该病的有效的方法。     

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。     

一个非综合征型多数牙缺失家系的临床及遗传学特征分析

目的:探讨一个非综合征型多数牙缺失家系的临床表型及遗传学特点.方法:对家系内部分患者及正常成员进行口腔专科检查和家系调查,总结分析其临床特征,并绘制系谱图以明确其遗传方式.结果:(1)该家系符合常染色体显性遗传模式,外显率较高;(2)患者牙列发育异常表现在牙齿数目、形态、位置及(牙合)关系等方面,先天缺牙以第二前磨牙及第三磨牙较为常见;(3)家系内不同个体的临床表型存在差异. 结论:该家系中,先天性缺牙呈常染色体显性遗传模式,外显率较高,表型差异较大.其临床特征以第二前磨牙和第三磨牙先天缺失较为多见.     

遗传性牙龈纤维瘤病中国家系中SOS1基因突变的研究

目的 筛查中国遗传性牙龈纤维瘤病(hereditary gingival fibromatosis,HGF)家系中SOS1基因,为寻找HGF致病基因突变提供线索.方法 收集到两个中国非综合征性HGF家系,患者表现出典型而且一致的临床表型.采取受试对象的外周血,提取基因组DNA.针对SOS1基因的23个外显子序列设计引物,PCR扩增纯化后进行Sanger测序.结果 两个中国HGF家系的患者均未携带已知SOS1基因的插入突变(c.3248-3249insC),在SOS1基因的外显子区,以及外显子与内含子交接的剪接区,均未发现其他的突变位点.结论 SOS1基因不是HGF中国家系的致病基因,中国HGF具有不同的遗传背景,存在其他潜在的致病基因和突变.应该利用全外显子组测序等方法,在中国HGF家系中寻找新的致病基因.     

口-面-指综合征Ⅰ型5例临床分析

目的: 分析口-面-指综合征Ⅰ型的临床特征,探讨其临床诊断与治疗方法。方法: 回顾2015年11月—2019年9月诊治的5例口-面-指综合征Ⅰ型患者的临床资料,总结临床诊疗经验。结果: 5例患者均为女性,存在口腔、面部畸形,3例存在手指畸形,2例母亲患者均有无诱因流产史,且伴多囊肾,3例幼儿患者未见多囊肾。舌龈系带矫正术、分叶舌及腭裂整复术后形态功能恢复良好,舌尖结节病理证实为错构瘤。结论: 口-面-指综合征Ⅰ型表型多样,可合并其他系统性缺陷,需与其他分型相鉴别。建议以手术整复畸形和改善功能障碍为主的多学科综合序列治疗,注意其他系统性缺陷的检查,以指导患者的医疗管理和健康监测。     

遗传性牙龈纤维瘤病致病基因机制研究进展

非综合征型遗传性牙龈纤维瘤病具有显著的遗传异质性,其致病基因及致病机制目前尚不明确;综合征型遗传性牙龈纤维瘤病,尽管大部分致病基因已知,但缺乏系统性整理及分析.本文对二者的致病基因及致病机制进行综述.     

腮腺舍格伦综合征与非霍奇金淋巴瘤相关性分析

目的:了解腮腺非霍奇金淋巴瘤与舍格伦综合征的临床及发病机制的相关性，正确诊断和治疗舍格伦综合征，尽早明确有无恶性变。方法：对142例口腔颌面部的非霍奇金淋巴瘤中21例发生在腮腺的非霍奇金淋巴瘤，及3例从合格伦综合征演变成淋巴瘤的病例进行分析。结果：21例腮腺区非霍奇金淋巴瘤的局部表现主要为肿块、反复肿胀，与类肿瘤型舍格伦综合征的一般特征和腮腺表现有相关性，其中3例腮腺淋巴瘤患者有明确的舍格伦综合征病史。结论：舍格伦综合征与腮腺非霍奇金淋巴瘤的发生发展，以及临床表现有相关性，部分类肿瘤型舍格伦综合征可演变为淋巴瘤，临床表现和免疫学改变可早期判断舍格伦综合征有无恶性变。     

颌骨转移性腺癌临床及CT影像学特征分析

目的:探讨以口腔颌面部症状为首发的颌骨转移性腺癌(metastatic adenocarcinoma of the jaw,MAJ)临床及CT影像学特征.方法:收集2006～2020年符合纳入标准的MAJ患者,回顾性分析其临床及CT影像学特点.结果:14例分别源于肺(6例)、肝(4例)、肾(2例)、前列腺和贲门(各1例).骨质改变分为5型:溶骨型占5/14,边缘呈浸润型改变;混合型占4/14,边缘大多呈虫蚀状改变;成骨型占1/14,边缘呈硬化型改变;类囊型及牙槽骨吸收型分别占3/14、1/14,边缘均呈地图型改变.结论:MAJ多见于中老年男性的下颌骨后部.首次将其在传统分类基础上,新增类囊型及牙槽骨吸收型.MAJ以进展迅速的溶骨型骨质破坏伴骨膜反应及局限性软组织肿块,且颌骨无明显膨隆及颏部麻木综合征为特征,为临床诊断提供重要依据.     

遗传性牙龈纤维瘤病的临床特点及致病基因检测

目的检测分析遗传性牙龈纤维瘤病（hereditary gingval fibromatosis，HGF）患者的临床特点及致病基因。方法收集HGF家系1个，采用先证者查证法对其家庭成员进行全身健康状况及口腔专科检查。收集患者及健康牙龈组织作HE和Masson染色进行组织学检查。抽取患者及正常家族成员的静脉血，提取基因组DNA，PCR扩增SOSI基因并测序，同源性比较分析（basiclocalalignmentsearchtool，BLAST）。结果患者牙龈组织HE染色显示典型牙龈纤维瘤病的组织病理表现，Masson染色显示胶原纤维较正常人丰富。SOSl基因突变检测未发现突变点。结论HGF具有高度遗传异质性，目前被成功克隆与鉴定的致病基因SOSl不是唯一的致病基因。     

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。     

Hereditary gingival fibromatosis: a three-generation case and pathogenic mechanism research on progress of the disease

Background: Hereditary gingival fibromatosis (HGF) is a rare benign disorder characterized by progressive overgrowth of gingiva. Although the clinical and histopathologic characteristics of HGF are explicit, the pathogenic mechanism remains unclear. The goal of this article is to describe a three‐generation HGF case and discuss the diagnosis, treatment, and inheritance of the disease. The known cellular and molecular features of HGF are also emphasized. Methods: Family and medical histories of the patients were recorded, and a series of preliminary examinations, including clinical, histologic, radiographic, and gene examination, were performed to make a diagnosis and learn about the genetic characteristics. An all‐quadrant flap surgery was performed to remove excess gingiva, and orthodontic treatment was undertaken to help tooth eruption. Recent advances were reviewed for further knowledge of genetic, cellular, and molecular features of HGF. Results: The patient's manifestations and examinations showed a typical HGF characteristic. There was no recurrence after surgery, and the premolars and molars erupted to bite plane. Genetic studies have found several gene mutations involved in HGF. Only the son‐of‐sevenless‐1 gene is identified. Multiple molecular factors, such as transforming growth factor‐β and matrix metalloproteinases, participate in HGF, regulating the extracellular matrix. Conclusions: Surgical intervention is the usual treatment of HGF, but patients still have to deal with the risk of recurrence. Once the correlations between gene mutations, molecular changes, histology, and clinical situation are clear, they can be applied to clinical application, providing novel methods for disease prognosis and diagnosis and targets for disease prevention and treatment.     

Hereditary gingival fibromatosis: report of three cases

Three cases of generalized and severe HGF in young patients of the same family without other features are reported. The purpose of this article is to present documented cases and discuss the identification, treatment, and control of the disease. The histopathological characteristics of HGF are emphasized.     

颌骨骨肉瘤3例及文献复习

目的探讨颌骨骨肉瘤的临床病理特征、诊断及鉴别诊断方法,并进行相关文献复习。 方法回顾性分析韶关市第一人民医院3例颌骨骨肉瘤临床资料,结合影像学特点,分析该病光学显微镜下的形态特征和免疫组化结果,并进行相关文献复习。 结果3例颌骨骨肉瘤,病例1发生于左上颌、病例2发生于左下颌,病例1、病例2病理诊断为颌骨普通型骨肉瘤;病例3发生于右下颌,诊断为颌骨低级别中心性骨肉瘤。颌骨骨肉瘤在临床上十分少见,与长骨骨肉瘤相比有其自身特点。 结论颌骨骨肉瘤在发病年龄,镜下特征均有所不同,临床上要注意与良性骨病相鉴别,需结合临床特征、影像学及病理镜下形态综合考虑。     

造釉细胞纤维瘤的临床、X线、病理分析

目的：研究造釉细胞纤维瘤的临床、Ｘ线、病理之间的关系。方法：本文报告１４例，分析、总结该瘤的临床、Ｘ线、病理特征，诊断与鉴别诊断。结果与结论：该瘤的组织来源及复发、恶变等生物学行为进行了讨论。     

腮腺内面神经鞘瘤6例临床分析

目的 分析探讨腮腺内面神经鞘瘤的临床特点和治疗要点。方法 回顾分析1992—2010年常州市第一人民医院收治的6例面神经鞘瘤患者的临床特点、影像学表现、诊断及治疗。结果 6例患者术前2例确诊。术后5例均有不同程度的面瘫症状。随访有2例为面神经功能Ⅲ级和Ⅳ级,其余患者面神经功能均恢复。所有病例随访未发现肿瘤复发。结论 腮腺区面神经鞘瘤是来源于神经鞘膜的神经源性良性肿瘤,临床罕见,易误诊、误治。保留面神经结构和功能极其重要。     

Hereditary gingival fibromatosis: a systematic review

Generalized gingival enlargement can be caused by a variety of etiological factors. It can be inherited (hereditary gingival fibromatosis [HGF]); associated with other diseases characterizing a syndrome; or induced as a side effect of systemic drugs, such as phenytoin, cyclosporin, or nifedipine. HGF, previously known as elephantiasis gingivae, hereditary gingival hyperplasia, and hypertrophic gingiva, is a genetic disorder characterized by a progressive enlargement of the gingiva. This review will focus on diagnosis, treatment, and control of HGF. The pattern of inheritance, the histopathologic characteristics, and the known biologic and genetic features associated with HGF are also emphasized.     

Hepatocyte growth factor and c-Met (HGF/c-Met) in adenoid cystic carcinoma of the human salivary gland

BACKGROUND: Hepatocyte growth factor (HGF) enhances cell growth, morphogenesis, and scattering of various epithelial cells. The aim of this study was to evaluate the hypothesis that HGF/c-Met plays a biological role in the invasive growth of adenoid cystic carcinoma (ACC). METHODS: Immunohistochemically, expression of HGF and its receptor c-Met was examined in 15 cases of ACC. To examine the direct effects of HGF on ACC, cell line derived from of ACC (ACC3) was used. The expression of HGF and c-met in ACC3 was investigated by RT-PCR. Analysis of mechanisms of invasion was done by performing scattering assay and matrigel invasion chamber assay. RESULTS: Positive staining of HGF was found in all cases, and that of c-Met was 67%. In ACC3, c-met was expressed, but not HGF. Stimulation of ACC3 by rhHGF induced scattering and promoted invasion. CONCLUSION: The present results suggest that HGF/c-Met increases tumor cell scattering and may play a part in invasiveness of ACC.     

Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology

Our aim is to describe a family with a nonsyndromic form of hereditary gingival fibromatosis (HGF) and discuss genetic characteristics of this rare disease by reviewing reported cases. A mother and three descendants were diagnosed with HGF. There was marked variable expressivity: from severe generalized gingival overgrowth in a 16-year-old boy (the proband) to minimal manifestations in the mother. The proband was submitted to gingivectomy and gingivoplasty. In younger siblings, the disease remained stable for 5 years, suggesting that clinical surveillance is a good option. The diagnosis was supported by histopathological examination. Analysis of this family and literature-reported cases supports that HGF most frequently shows an autosomal dominant inheritance with high penetrance and variable expressivity. Neomutations and gonadal mosaicism do not seem to be a rare event. Although five loci have been mapped by linkage analysis, only two genes, SOS1 and REST, were identified in four families.     

The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years

Hereditary gingival fibromatosis (HGF) is characterized by the slowly progressive fibrous enlargement of gingival tissue. It usually develops as an isolated disorder but can also be one feature of various syndromes. The currently preferred terminology of these syndromes mainly describes the clinical features of the disorder without identifying the cause. In this report, we present the 5-year follow up of a family with HGF and features of 3 previously described syndromes: Jones syndrome, Zimmerman-Laband syndrome, and HGF-hypertrichosis syndrome. The 45-year-old father had HGF, hypertrichosis, hearing loss, and short stubby fingers and toes with hypoplasia of the terminal phalanges and hypoplasia of the nails on the thumbs. The features of 13-year-old son were almost identical to those of his father except for hypertrichosis, but in addition he was mentally retarded. Although the 10-day-old son had HGF and defective fingers, the mother and 7-year-old daughter were unaffected. Owing to the overlap of these syndromes, we argue that the identification of the genetic pathways and mechanisms will be the most important factor in classifying these disorders, with the phenotype playing a minor role.     

Hereditary gingival fibromatosis: Clinical and ultrastructural features of a new family

Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial patient with a mutation), which was transmitted to her daughter through an autosomal dominant mode of inheritance. The affected patients showed a generalized gingival overgrowth. The patient was treated with surgical procedures of gingivectomy and gingivoplasty. The diagnosis was confirmed by histopathology examination that showed a well-structured epithelium with elongated and thin papillae inserted in fibrous connective tissue with increased amount of collagen. The ultrastructural aspects of the tissue show collagen fibrils exhibiting their typically repeating banding pattern with some fibrils displaying loops at their end. Moreover, it was possible to seen in some regions fibrillar component presenting tortuous aspects and loss of the alignment among them. Conclusions: This HGF frequently resulted in both esthetic and functional problems. The genetic pattern of this Brazilian family suggested a new mutation, which was later transmitted by an autosomal dominant trait. Key words:Gingival fibromatosis, genetic disease, pedigree, ultrastructure.