遗传性牙龈纤维瘤临床报道及文献回顾

目的：遗传性牙龈纤维瘤病（hereditary gingival fibromatosis。HGF）是一种罕见的以牙龈组织弥漫性、渐进性增生为主要特征的良性病变,发病机制和临床表现较为复杂,至今仍病因不明。本文报道一例以牙龈增生为主诉的儿童HGF患者,并回顾近年来对HGF的发病机制、临床表现、组织学特点及其治疗方面的进展。     

遗传性牙龈纤维瘤病研究进展

遗传性牙龈纤维瘤病是一种罕见的以全口牙龈弥漫性纤维增生为特征的良性病变,其临床表型、组织学特点、遗传方式均有明显异质性。目前人们利用分子遗传学手段已发现至少2个致病基因位点,其中一个基因已被克隆。本文现就该领域的这些最新进展进行综述。     

遗传性牙龈纤维瘤病1例

遗传性牙龈纤维瘤病是一种罕见的以牙龈组织缓慢、渐进性增生为主要特征的良性病变。本文对1例遗传性牙龈纤维瘤病的临床检查、病史进行报道,并结合文献对其进行讨论。     

遗传性牙龈纤维瘤病一家族三代1例

遗传性牙龈纤维瘤病是一种罕见的家族遗传性疾病,以牙龈组织缓慢、渐进性增生为主要特征。本文对1例遗传性牙龈纤维瘤病家族进行报道及文献回顾。     

遗传性牙龈纤维瘤病研究进展

遗传性牙龈纤维瘤病是一种罕见的以全口牙龈弥漫性纤维增生为特征的良性病变，其临床表型、组织学特点、遗传方式均有明显异质性。日前人们利用分子遗传学手段巳发现至少2个致病基因位点，其中一个基因巳被克隆。本文现就该领域的这些最新进展进行综述。     

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。     

遗传性牙龈纤维瘤病发病机制的研究

摘要近年来国内外对遗传性牙龈纤维瘤病的病因及发病机制的研究取得了很大突破,本文主要从细胞外基质的异常积累、基因突变及性激素和表皮生长因子的作用几个方面对遗传性牙龈纤维瘤病的发病机制作一综述。     

遗传性牙龈纤维瘤病发病机制的研究

近年来国内外对遗传性牙龈纤维瘤病的病因及发病机制的研究取得了很大突破，本文主要从细胞外基质的异常积累、基因突变及性激素和表皮生长因子的作用几个方面对遗传性牙龈纤维瘤病的发病机制作一综述。     

翼腭凹侵袭性纤维瘤病诊治探讨

目的:探讨颌面颈部侵袭性纤维瘤病(aggressive fibromatosis,AF)的发病情况、临床表现、病理特点及治疗选择。方法:通过对1例翼腭凹侵袭性纤维瘤病病例的深入分析,并结合相关文献综述,加深对此病例相关情况的认识。结果:本病例因AF位置深,侵犯范围广,邻近颈椎、颈内动脉及颅底,故未能完全扩大切除病灶,结合术后放疗,随访提示治疗效果满意。结论:侵袭性纤维瘤病是一种罕见的、手术切除后易复发的、纤维增生性良性或低度恶性肿瘤,手术切除后结合放疗可达到较好的治疗效果。     

遗传性牙龈纤维瘤病发病机制研究进展

遗传性牙龈纤维瘤病（hereditary gingival fibromatosis，HGF）是一种罕见的以牙龈组织缓慢、渐进性增生为主要特征的良性病变。发病率国外为1／750000，国内尚无确切统计。患者多有家族史，也可散发。遗传方式以常染色体显性遗传为主，少数为隐性遗传。     

Hereditary gingival fibromatosis: a case report

BACKGROUND/AIMS: Hereditary gingival fibromatosis is characterized by various degrees of attached gingival overgrowth. It usually develops as an isolated disorder but can be one feature of a syndrome. A case of a 38-year-old female is reported who presented a generalized severe gingival overgrowth, involving the maxillary and mandibular arches and covering almost all teeth. The clinical differential diagnosis included drug-induced overgrowth as well as idiopathic gingival fibromatosis. TREATMENT: Excess gingival tissue was removed by conventional gingivectomy. As the gingival enlargement was generalized to all quadrants, on both sides, the surgery was carried out under general anaesthesia. The postoperative course was uneventful and the patient's appearance improved considerably. Post-surgical follow-up after 20 months demonstrated a slight recurrence CONCLUSIONS: Hereditary gingival fibromatosis is a rare disorder characterized by the proliferative fibrous overgrowth of the gingival tissue. Resective surgery of the excess tissue is the treatment available. However, recurrence is a common feature.     

Current concepts on gingival fibromatosis‐related syndromes

Gingival fibromatosis is a rare, benign, slowly‐growing fibrous overgrowth of the gingiva, with great genetic and clinical heterogeneity. Gingival fibromatosis/overgrowth can be inherited as an isolated trait (hereditary gingival fibromatosis) and/or as a component of a syndrome, or it can be drug induced. As a clinical manifestation of a syndrome, gingival fibromatosis is usually associated with generalized hypertrichosis, mental retardation, or epilepsy. Gingival fibromatosis and its related syndromes are mainly inherited in an autosomal‐dominant manner, but autosomal‐recessive inheritance has also been reported. Clinical syndromic presentation includes Zimmermann–Laband syndrome, Ramon syndrome, Rutherford syndrome, Cowden syndrome, Cross syndrome, Göhlich–Ratmann syndrome, Avani syndrome, and I‐cell disease. However, a phenotypic overlap has been suggested, as many combinations of their systemic manifestations have been reported. Treatment of choice is usually gingivectomy with gingivoplasty. Before any therapy, clinical practitioners must take into consideration the clinical course of a particular syndrome and every possible functional and esthetic disorder.     

Three siblings with juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF) is an extremely rare hereditary genetic disease of autosomal recessive transmission that is characterized by large cutaneous tumors commonly involving the scalp, papulonodular skin lesions, flexural joint contractures, gingival hyperplasia, and osteolytic bone lesions. JHF is usually diagnosed in young infants and in children younger than 5 years, and the lesions characteristic of this disorder consist of fibrous tissue and homogenous amorphous eosinophilic hyaline material. We report the case of a 9-year-old girl with severe gingival hyperplasia, nasal enlargement, mild osteoporosis, and multiple papulonodular skin lesions. Her two brothers (7 and 13 years of age, respectively) were also diagnosed as having JHF. In the patient described in this report, the maintenance of oral hygiene after gingivectomy enabled the continued resolution of gingival hyperplasia, although skin lesions recurred and nasal overgrowth persisted.     

Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports

Hereditary gingival fibromatosis is characterized by varying degrees of attached gingival hyperplasia and may in rare cases present as a feature of a generalized syndrome. It is usually inherited as an autosomal dominant condition though recessive forms are described. The dental and genetic features of an affected brother and sister with a probably unique autosomal recessive hereditary fibromatosis syndrome are presented.     

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。     

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.     

Severe gingival hyperplasia in a child with I-cell disease

Summary. I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme, N-acetylglucosamine-1-phosphotransferease. The disease presents as a mental and motor developmental delay with oral manifestations that include severe gingival hyperplasia usually seen before one year of age. The life expectancy of children with this condition is poor, with death usually occurring around the fifth year. A case report of a 3-year-old Pakistani male, with I-cell disease, is presented. The chief dental concerns of the parents were his swollen gums and delayed tooth eruption. Supportive treatment only was initiated. Differential diagnosis for severe gingival overgrowth in young patients should take account of this rare metabolic disorder in addition to hereditary and idiopathic fibromatosis and drug associated gingival overgrowth.