Gardner综合征中的颅颌面外周骨瘤
Craniomaxillofacial Peripheral Osteomas in Gardner Syndrome.
文献信息
| PMID | 42703067 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Yanhuang Liang |
| 作者单位 | State Key Laboratory of Oral Diseases, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Department of Oral Medical Imaging, West China Hospital of Stomatology, Sichuan University, Chengdu. |
| 期刊 | The Journal of craniofacial surgery |
| SCI 分区 | Q3 |
| IF | 1.1 |
| 研究类型 | 综述 Meta · 临床 |
| 所属专科 | 鼻科 |
中文摘要
Gardner综合征是一种癌前病变，特征为家族性腺瘤性息肉病（FAP）、多发性骨瘤和软组织肿瘤。颅颌面外周骨瘤常导致可见的面部畸形，有助于早期发现该综合征——往往在FAP表现之前——从而为干预提供关键窗口，以预防恶性转化并降低死亡率。一项系统综述检索了8个电子数据库，从建库至2024年12月。并补充了一例机构病例：一名21岁女性患有多发性颅颌面外周骨瘤，于26岁时成功接受手术切除，随访4年无复发。纳入经确认与Gardner综合征相关的颅颌面外周骨瘤研究。提取了流行病学、临床/影像学特征及治疗数据。对113例（87项已发表研究加1例新病例）的汇总分析显示，这些骨瘤主要影响年轻患者（中位年龄：20岁）。病变通常为多发性，位于颅骨、鼻旁窦和下颌骨，导致明显的美容畸形。影像学（平片、全景片、CT）显示边界清晰、圆形或椭圆形的阻射性肿块。手术切除是症状性或毁容性病变的主要治疗方法，复发罕见。早期识别这些特征性骨瘤有助于及时进行FAP监测，从而采取及时的预防措施，显著改善预后并降低死亡率。
英文摘要
Gardner syndrome is a precancerous condition featuring familial adenomatous polyposis (FAP), multiple osteomas, and soft tissue tumors. Craniomaxillofacial peripheral osteomas often cause visible facial deformities, enabling early detection of the syndrome-frequently before FAP manifests-thus providing a critical window for intervention to prevent malignant transformation and reduce mortality. A systematic review searched 8 electronic databases from inception to December 2024. This was supplemented by one institutional case of a 21-year-old female with multiple craniomaxillofacial peripheral osteomas, who underwent successful surgical excision at age 26 and remained recurrence-free after 4 years of follow-up. Studies with confirmed craniomaxillofacial peripheral osteomas linked to Gardner syndrome were included. Data on epidemiology, clinical/radiologic features, and treatment were extracted. Pooled analysis of 113 cases (87 published studies plus one new case) showed these osteomas predominantly affect young patients (median age: 20 y). Lesions are typically multiple, located in the skull, paranasal sinuses, and mandible, causing noticeable cosmetic deformities. Imaging (plain radiographs, panoramic views, CT) reveals well-defined, round or oval radiopaque masses. Surgical excision is the main treatment for symptomatic or disfiguring lesions, with rare recurrence. Early recognition of these characteristic osteomas facilitates prompt FAP surveillance, enabling timely preventive measures that significantly improve outcomes and reduce mortality.