口腔颌面部Ⅰ型神经纤维瘤病研究进展

Ⅰ型神经纤维瘤病（neurofibromatosis type1,NF1）是一种常染色体显性遗传病,成人为完全外显率,是已知的人类疾病中基因突变率最高的疾病之一,患病率约为1/2000～1/7000。NF1是一种多系统性疾病,最显著的2个特点是缓慢进展性（年龄相关性）和极度多样性。主要表现为咖啡色斑（cafe-au-lait spots,CALs）、神经纤维瘤（neurofibromas,NFs）、腋窝或腹股沟雀斑（Crowe征）、视神经胶质瘤、Lisch小体（Lisch nodules,又称虹膜错构瘤）和骨组织病损。约72%的患者可出现口腔表现。由于NF1是最常见的遗传病之一,且口腔表现很常见,口腔医师应熟悉该病的特点。口腔颌面部治疗仍以手术改善面容和功能为主。近年来,手术技术、影像学检查、药物开发和分子学检测等已有新的进展,本文从流行病学、临床表现、病理学表现、发病机制、诊断、治疗及预后等方面对口腔颌面部NF1进行综述,重点介绍了近年来的研究进展。

Study progress on neurofibromatosis type 1 in oral and maxillofaciai region

Neurofibromatosis type 1 （NF1） is an autosomal dominant hereditary disorder with complete penetrance in adults. It has the highest rate of new mutation of any known single-gene disorder, with a prevalence ranging from 1/2,000 to 1/7000. It is a multiple-system disease , characterized by age-dependent and extremely variable expression. It is mainly manifested by café au lait pigmentation, neurofibromas, axillary or inguinal freckling, optic pathway tumor, Lisch nodules, distinctive osseous lesion. Oral manifestations could be found in almost 72% of NF1 patients. Because NF1 is one of the most common genetic diseases, and oral manifestations are very common, dentists should be aware of the characteristics of this disease. The treatment of NFI in the oral and maxillofacial region is still mainly to improve the esthetics and function through operation.New progress has been made in the operation technique, imaging examination, medical trial, and molecular diagnosis ,however,there are few studies of NF1 in oral and maxillofaeial surgery . This review focused on NF1 occuring in the oral and maxillofacial region, and comprehensively reviewed this disorder in terms of history, epidemiology, clinical manifestation, pathology, pathogenic mechanism, diagnosis, treatment and prognosis, especially the research progress in the recent years.