Gardner综合征诊疗现状及进展

Gardner综合征是口腔颌面部疾病中比较罕见的一类疾病,以多发结直肠道息肉、多发性骨瘤、皮肤和软组织肿瘤三联征为特征.其早期治疗有更好的预后,因此早期诊断非常重要.Gardner综合征早期病变一般在口腔颌面部表现出来,因此,口腔医生在本病的早期诊断中扮演了重要角色.本文总结了Gardner综合征与基因突变相关的病因研究,并且归纳了Gardner综合征以口腔颌面部畸形、多发胃肠道息肉以及硬纤维瘤为特点的临床表现及其相关治疗的进展,综述如下.     

Gardner综合征的病例报告及文献回顾

Gardner综合征是一种以家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)、多发骨瘤和软组织肿瘤为特点的常染色体显性遗传病。因为肠道腺瘤性息肉的恶变率高达100%,所以早期诊断、早期治疗具有重要意义。本文报道了1例于我院口腔科就诊的Gardner综合征患者,临床表现为直结肠腺瘤性息肉、副鼻窦及下颌骨多发骨瘤和颈部硬纤维瘤。此外,本文还就Gardner综合征的临床表现、诊断、治疗、并发症的预防等方面进行了文献回顾。     

加德纳综合征的口腔颌面部表现一例

加德纳综合征(Gardner综合征)是一种以胃、结肠和十二指肠息肉为特征并多发性骨瘤、皮肤和软组织肿瘤的常染体显性遗传病.皮肤可表现为表皮样囊肿、硬纤维瘤和其他良性肿瘤.加德纳综合征具有100%恶变趋势[1].因此该病的早期鉴别诊断及治疗至关重要.加德纳综合征最常见的临床表现之一即发在上下颌骨及颅骨部位的骨瘤是以持的、慢性增长为特征的良性病变[1].由于本病少见,临床上常认识不足,查阅国内外文献少有从颌面外科角度的报道,现将诊治的一例报告如下.     

Gardner氏综合征2例

Gardner综合征又称骨瘤病肠息肉综合征,是一种少见病,现将我们所遇一个家族2例报道如下。例1,男,17岁。6年前发现两侧下颌角肿大,近3年增长较明显,但无不适,为整形来我院就诊。患者无消化道疾患。既往;1987、     

Gardner氏综合症病例报告

口腔科文献上完全证明了有些胃肠疾患有口腔表现,如Peutz—Jegher综合症及Gardner氏综合症有肠息肉及口腔阳性发现。由于Gardner氏综合症有高度的恶性倾向,未能确诊的患者死亡率很高。故口腔及领面外科医师必须了解某些口腔症状与Gardner氏综合症相联系,在发现.口腔症状时把病人转他科再检查。有三种疾患与Cardner氏综合定相关:家族性肠腺瘤病或     

Gardner氏综合征

Gardner氏综合征1951年被首次提出,是一种较为少见的疾病。其特征是骨瘤、体表肿瘤及多发性息肉。发病率为1/100万骨瘤较息肉出现的早,多发生于青春期。包括造釉细胞瘤、内生及外生性骨疣及特异性骨瘤。多局限于颌骨,可导致牙移位、晚萌、阻生和局部畸形。体表肿瘤多在青春期出现,包括多发性皮样囊肿(多发生于头颈部)、脂肪、平滑肌瘤、纤维瘤、神经纤维瘤等。息肉常常发生在大肠,多在20岁以后出现,并且有恶变趋势。 Gardner氏综合征是一种常染色体的显性遗传性疾病,预后较差。主要是手术治疗。本文笔者报     

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。     

头背部多发性表皮样囊肿的临床诊治

表皮样囊肿多为单发性圆形良性肿物。本文结合1例罕见的头背部多发性表皮样囊肿病例,回顾总结国内外详细记载的相关文献分析该病,认为病史、临床表现、超声检查、CT及MRI等检查有助于术前明确诊断及选择手术方案,多发者需与皮样囊肿及Gardner综合征鉴别,而最终确诊需要依靠病理检查。手术是目前主要治疗方法,完整摘除预后好。本病可有少数恶变,生长加速或疼痛出现等可视为癌变的征象,故应尽早手术治疗。     

病例报告：Proteus综合征的牙周特点和其他口腔表现

Proteus综合征是一种极其罕见的先天性疾病．其特征是多种组织出现进行性非对称性过度生长。目前为止,该综合征病因尚不清楚。本文描述了一例Proteus综合征患者牙周组织的临床特点和影像学特点．以及其他口腔表现。该Proteus综合征患者是一个13岁巴西白人女孩。我们对患者进行了临床检查和全口的口内影像学分析．发现患者表现有骨骼畸形、巨人症、特征性面型以及包括颅骨、左手和下肢在内的多种组织非对称性过度生长。患者左脚跖面有脑回状结缔组织痣,双手关节活动度也有所下降。口内检查结果显示患者还表现有其他的口腔问题．包括局限于口腔左侧的恒牙釉质发育不全、广泛性牙龈增生、大量牙菌斑沉积和牙齿错位。未检出牙周袋和牙槽骨的破坏。总之．这例Proteus综合征患者的口腔表现包括：牙龈增生、牙齿错位以及单侧牙齿釉质发育不全。     

儿童舍格伦综合征的临床及X线研究

作者对８例儿童舍格伦综合征患者的临床及Ｘ线表现进行观察，发现涎腺反复肿大是儿童舍格伦综合征的重要表现，这与成人患者有所不同；首次报道主导管花边样改变在儿童舍格伦综合征的涎腺造影表现中具有重要的诊断意义；对儿童舍格伦综合征与儿童复发性腮腺炎的临床及涎腺造影表现的鉴别进行了讨论。     

Gardner syndrome with maxillofacial manifestation: A case report

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Since the maxillofacial findings usually precede gastrointestinal polyps, the dentist plays a crucial role in the diagnosis of Gardner syndrome, and panoramic radiography is an important tool in the diagnosis of the disease. We report here a case of Gardner syndrome in a patient showing mandibular osteomas and impacted teeth. Also, cases of Gardner syndrome with maxillofacial manifestations reported in the literature were reviewed and compared with ours. According to the findings, osteomas are important manifestations of this syndrome, and regardless of the absence of family history of intestinal polyposis, their occurrence should prompt diagnostic evaluation for this disease.     

Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps and extraintestinal manifestations. The extraintestinal manifestations include multiple osteomas, connective tissue tumors, thyroid carcinomas, and hypertrophy of the pigmented epithelium of the retina. Osteoma is a benign neoplasm of bone tissue characterized by slow continuous growth that usually affects the long bones and cranial bones and is a major symptom for Gardner syndrome. The authors report the extraintestinal lesions affecting the maxillofacial regions in 2 male patients (father and son) with Gardner syndrome. The presurgical planning and surgical management of these lesions are described.     

Benign osteoma with Gardner syndrome: review of the literature and report of a case

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine (duodenum), multiple osteomas, and skin and soft tissue tumors. Cutaneous findings include epidermoid cysts, desmoid tumors, and other benign tumors. Polyps have a 100% risk of undergoing malignant transformation; consequently, early identification and therapy of the disease are critical. Osteoma is a benign neoplasm of bone tissue that is characterized by slow continuous growth and is the most common accompanying bone lesion seen in Gardner syndrome. The authors report a case of Gardner syndrome that was operated on because of the mandibular osteoma.     

Familial adenomatous polyposis or Gardner syndrome--review of the literature and presentation of 2 clinical cases

Gardner syndrome is a type of hereditary gastrointestinal polyposis. Dental professionals should be aware that this syndrome can present as multiple impacted teeth and sometimes as large osteomas in the head and neck area. Following a brief review of literature, we present two cases of Gardner syndrome. One of these cases was diagnosed after a dental examination. The high incidence of malignant transformation of polyps into colorectal cancer indicates the importance of early diagnosis and follow-up.     

The Gardner syndrome

The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. A case of a 17-year-old male is presented who complained of painless and hard swellings on the angle of the mandible bilateraly. The patient presented the original triad of lesions of the Gardner syndrome. On the panoramic X-ray, characteristic radio-opaque lesions (exostoses and enostoses) on the jaws were shown and a compound odontoma was detected in the left side of the mandible.     

A case contribution to the Gardner syndrome]

As to its course the Gardner syndrome is similar to a chronic disease and has the following symptoms: 1. Fibro-epithelial tumours of the skin with first symptoms in early childhood. 2. Osteomes, osteofibromas, desmoids mainly located in the cranial region. 3. Disturbances of the dental development in the form of tooth retentions, persistence of milk teeth and supernumerary tooth germs. 4. Intra- and retroperitoneal or intramesenteric fibromatoses which scarcely become clinically manifest. 5. Intestinal polyposis occurring in most cases only in the third decade of life. The tumours of the skin, of the connective tissue and of the bone are always benign, whereas the intestinal polypi show a considerable tendency toward malignant degeneration. For this reason, the prognosis of the Gardner syndrome must be considered unfavourable. On the basis of a case report, the clinical symptoms and findings in the maxillofacial region are outlined.     

Non-syndromic multiple supernumerary teeth transmitted as an autosomal dominant trait

Supernumerary teeth are common in the general population and occur more frequently in-patients with family history of such teeth. Multiple supernumerary teeth are associated with cleidocranial dyplasia and Gardner syndrome. However it is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. We describe the occurrence of multiple supernumerary teeth in a family occurring as a non-syndromal trait. The autosomal dominant transmission of non-syndromal multiple supernumerary teeth is new.     

Huge osteoma of the mandible: report of case.

A review of the literature on osteoma of the jaws as well as its relationship to Gardner syndrome was presented. A case report of a compact or ivory osteoma that had been slowly enlarging for a minimum of eight years was described. The one-year postoperative examination has shown no discernible resumption of growth.     

Peripheral osteoma of the mandibular condyle

Osteomas are benign bone neoplasms, classified as either peripheral or central. The peripheral variant is rare, with only six cases reported involving the mandibular condyle, that are not related to Gardner syndrome. The seventh case of peripheral osteoma involving the mandibular condyle is reported in this paper.