Ⅰ型神经纤维瘤病诊治进展

Ⅰ型神经纤维瘤病(NF1)是一种常染色体显性遗传神经皮肤疾病,其临床表现多样、复杂,治疗困难。分子生物学和影像学技术的进步以及大鼠模型的建立,使人们对其病因、发病机制和临床表现的认识更加深入,有望在治疗方面取得突破。本文复习相关文献,对NF1的发病机制、诊断标准、主要鉴别诊断、临床表现以及监测、处理NF1并发症的当前策略进行了概述。     

Ⅱ型神经纤维瘤病分子遗传学研究进展

Ⅱ型神经纤维瘤病（neurofibromatosisⅡ，NF2）是一种由NF2基因突变引起的常染色体显性遗传性疾病，基因定位于22q12．2，其突变类型多但无明确的突变热点，蛋白产物Merlin具有肿瘤抑制功能。近年来，关于NF2基因和遗传学的研究取得了较大进展，本文就NF2基因、Merlin蛋白及基因型和表现型的关系等研究进展作一综述。     

儿童腮腺神经纤维瘤病(NFⅠ型)1例

神经纤维瘤病(NF)是一种最常见的神经皮肤综合征,分为NFⅠ型(周围型)和NFⅡ型(中枢型)。NFⅠ型主要发生于躯干、四肢和头面部的皮肤和皮下,发生于腮腺者罕见。一、病例介绍患者,男,10岁,因左侧腮腺缓慢增大10年,伴触压痛性结节5年入院。查体:左侧腮腺区弥漫性肿大,边界不清,约1     

神经纤维瘤病一家系调查报告

神经纤维瘤病是一种常染色体显性遣传性疾病，Von Recklinghausen于1882年对其组织学特点及其与神经系统的关系作了详细的阐述，故亦称“Won Recklinghauson’s disease”（VRD）。本院收治一家系连续两代5人发病，临床或病理均符合神经纤维瘤病，现报道如下。     

Ⅰ型神经纤维瘤病分子遗传学研究进展

Ⅰ型神经纤维瘤病(neurofibromatosis,NF1)又称Recklinghausen病或周围神经纤维瘤病,是一种常见的常染色体显性遗传性疾病,其基因突变种类多,可侵犯身体的多个系统,临床表现多种多样。NF1发病率为1/3 000～1/3 500,主要表现为皮肤及皮下神经纤维瘤、咖啡斑和雀斑、Lisch结节、虹膜错构瘤以及神经胶质瘤、恶性周围神经鞘瘤(malignantperipheral nerve sheath tumor,MPNST)、骨发育异常和智能障碍,约15.0%～19.87%合并中枢神经系统肿瘤,如星状细胞瘤和其他恶性肿瘤。近年来,随着分子生物学和细胞生物学技术的广泛应用,国内外学者对其遗传…     

Ⅰ型神经纤维瘤病面部恶变1例

I型神经纤维瘤﹙neurofibromatosis type I,NF1﹚是由神经鞘细胞及纤维母细胞两种成分组成的良性肿瘤,其恶变者报道较少。我院收治1例腮腺区I型神经纤维瘤恶变患者。患者在神经纤维瘤病基础上发生恶变,成为恶性神经鞘瘤,肿块巨大,部位特殊,手术难度高,经术后病理已确诊。本文对此病例临床资料进行了详细报道,并结合文献对其诊治要点进行了回顾。     

头颈部大型神经纤维瘤病手术治疗难点的探讨

目的:探讨头颈部大型神经纤维瘤病(neurofibromatosis, NF)治疗中棘手问题的临床应对措施。方法:对3例头颈部巨型NF的临床资料及治疗过程进行回顾性总结,评估手术安全性、手术原则、手术时机及手术次数。结果:3例头颈部巨型NF经分次手术,病灶均被大部分切除,术中出血量控制好,头颈部外形改善满意,受累眼睛、耳廓、口唇的保留及修复效果均满意。结论:正确把握巨型NF治疗原则、谨慎处理好治疗中的棘手问题可达到满意的效果。     

分次手术结合激光治疗颌面部神经纤维瘤病8例分析

目的：评价分次手术结合激光治疗颌面部神经纤维瘤病的疗效。方法：对8例神经纤维瘤病患者采用分次手术,术中结合激光止血,皮肤病变采用脉冲激光治疗。结果：8例患者每次手术中出血控制在100～400ml,无失血性休克发生。术后患者外观改善良好,对于皮肤色素斑,激光治疗能在短期内得到一定程度的改善。结论：分次手术结合激光治疗神经纤维瘤病,有肯定的治疗效果,是一种具有良好应用前景的方法。     

下颌骨正中神经纤维瘤1例

神经纤维瘤是一种起源于神经组织的良性肿瘤,孤立性神经纤维瘤是一种发生在没有遗传性神经纤维瘤病的个体中的单一病变,常见于软组织中,但在头颈部,在颌骨内孤立的神经纤维瘤的发生较为少见,其最常见部位为下颌骨.Bruce在1954年首次报道了口腔孤立性神经纤维瘤,该疾病平均发病年龄27.5岁,15～45岁之间[1].现将报道下...     

NF1相关神经纤维瘤炎症微环境的研究进展

[提要]神经纤维瘤是I型神经纤维瘤病的特征性症状之一,终生进展,治疗难度大,而其发病机制仍不明确.瘤内的施万细胞呈NF1双等位基因失活状态,可激活RAS-GTP信号转导,继而释放大量细胞因子,为免疫细胞的募集提供了富含细胞因子的微环境.相较于免疫炎症细胞在正常外周神经中的低占比率,在NF1相关神经纤维瘤中,30％的细胞...     

Manifestations of the tongue in Neurofibromatosis type 1

OBJECTIVE: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. SUBJECTS AND METHODS: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. RESULTS: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings were useful in distinguishing between neurofibromas and other soft tissue tumors. An increased prevalence of malignancy has been documented in patients affected by neurofibromatosis type 1. Changes in the size of a pre-existing mass, compression, or infiltration of the adjacent structures indicate malignant degeneration. Histological and clinical evaluation should be performed in order to choose the most appropriate treatment strategy for these patients. CONCLUSION: The oral manifestations of NF are well-documented but may not be at the forefront of the clinician's mind in the differential diagnosis of intra-oral swellings.     

颞下颌关节骨关节病的诊治进展

颞下颌关节骨关节病(temporomandibul1ar joint osteoarthrosis,TMJOA)是一种常见的颞下颌关节疾病,主要表现为开口受限、关节区疼痛、摩擦音等一系列症状,严重影响患者的生活质量,甚至危及生命.近年来,随着影像学和组织工程等技术的发展,TMJOA的诊治方法不断得以提高和完善.本文就TMJOA的诊治进展做一综述.     

露龈笑诊断治疗的研究进展

许多患者因露龈笑前来正畸科求治。露龈笑的形成与多种因素有关,针对不同的病因,有不同的治疗方法。本文就微笑的解剖学基础和美学特点以及露龈笑相关因素的研究进展、治疗方法和治疗中应注意的问题作一综述。     

Neurofibromatosis 1 and dental caries

A total of 110 patients with neurofibromatosis 1 (NF1) were evaluated for their dental health. Appropriate cohorts from national Finnish databases were used as reference. The results showed that NF1 patients presented lower rate of caries compared to controls in age groups under 35 years. The differences between NF1 patients and the reference population diminished by age. In conclusion, (1) NF1 per se does not predispose to caries; and (2) even if NF1 had an adverse effect on dental health, poor outcome can be counteracted with good personal dental care supported by well organized primary health care. The results of the present study are important to report since a common anecdotal perception is that the rate of caries may be higher in NF1 compared to reference population.     

Advances in the diagnosis and treatment of oral cancer.

Cancer of the oral cavity is fortunately rare in the Western world. However, rates are rising and are comparatively high in lower socioeconomic groups and in many metropolitan areas. Whenever possible, cancer of the oral cavity should be distinguished from "head and neck" cancers, because "site" is so important in the behavior of the disease. This review discusses the advantages and disadvantages of various methods of diagnosis, therapy, reconstruction, social rehabilitation, and pain control of oral cancer and of head and neck cancer.     

Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible

Neurofibromatosis type 1, or von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans. Clinically, Neurofibromatosis type 1 is characterized by café-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors of the central nervous system. Central giant cell granuloma is a benign central lesion of bone, primarily involving the jaws, of variably aggressive nature characterized by aggregates of multinucleated giant cells in a background of cellular vascular fibrous connective tissue and spindle-shaped mononuclear stromal cells. The association between neurofibromatosis and central giant cell granuloma has been reported in the literature. A case of mandibular bilateral central giant cell granuloma in a patient with Neurofibromatosis type 1 was conservatively but successfully treated by adequate surgical curettage of mandibular bone lesions.     

Neurofibromatosis type 1: a clinicopathological study of the orofacial manifestations in 6 pediatric patients

Neurofibromatosis type 1 (NF1) is a relatively frequent mucocutaneous syndrome, which is transmitted as an autosomal dominant trait or which may represent neomutation. It is characterized by a variety of clinical manifestations, including multiple neurofibromas that are associated with a high risk of sarcomatous transformation. The aim of this report was to elucidate the orofacial manifestations observed in 6 pediatric patients (between 4 and 15 years of age) diagnosed with NF1. Physical, clinical, radiological, histological, and immunohistochemical studies were performed. Orofacial lesions were observed in all studied patients, located either in the soft tissues (4 cases) or centrally in the jaws (2 cases). All cases showed facial asymmetry, one of them exhibiting marked facial hemihypertrophy. All cases with soft tissue involvement were plexiform neurofibromas, while the intraosseous cases were diagnosed as solitary neurofibromas. Knowledge of the variability of presentation of orofacial soft tissue and bone manifestations of NF1 in children is necessary for prompt diagnosis.     

血管瘤和血管畸形的诊治进展和整形原则

二十年来,人们对血管瘤和血管畸形的认识有了广泛的提高,在中文文献中,更多作者已不再使用1863年由细胞病理学之父Virchow提出的分类概念(毛细血管瘤、海绵状血管瘤和蔓状血管瘤),并区分了血管瘤和血管畸形,更多使用血管瘤、海绵状静脉畸形及动一静脉畸形等更合理的概念.     

锥形束CT在牙体牙髓病诊治中的临床应用

锥形束CT(CBCT)作为一种新型高分辨率X线成像系统,因扫描速度快、空间分辨率高、辐射剂量小、图像伪影少等优点,在口腔医学领域获得越来越广泛的应用.本文就CBCT在牙体牙髓病诊治中的应用作一综述.