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[雷克林豪森神经纤维瘤病。一例报告]

[Recklinghausen neurofibromatosis. Report of a case].

作者信息

Tripi T R, Bonaccorso A

机构信息

Cattedra di Clinica Odontostomatologica, Università degli Studi, Catania.

出版信息

Minerva Stomatol. 1998 Nov;47(11):617-22.

PMID:9882998
Abstract

Neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissues. These disorders produce other abnormalities such as skin changes and bone deformities. Neurofibromatoses occur in both sexes and in all races and ethnic groups. Scientists have classified these disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Other types of neurofibromatoses may exist, but are not yet identified. Nearly 50% of the cases shows a well definited familiarity for the disease, according to an autosomal dominant transmission, while the other 50% of patients shows a negative history of familiarity, according to a new chromosomal mutation interesting the same autosomal genes of the dominant transmission. Oral localization is more rare showing an incidence ranging from 4 to 7% in most series of different authors. The most frequent involvement site in oral neurofibromatosis is the tongue, followed by the oral mucosa and floor of the mouth; palate and maxillary-mandibular bones are a rare localization of the disease. In the present, the clinical, radiological, histopathological and therapeutical aspects of a clinical case of neurofibromatosis, presenting as mandibular tumor, are examined. The clinical case reported, a 37 year old man, was essentially characterized by a positive family history for the disease, a neurofibroma of the oral mucosa.

摘要

神经纤维瘤病是一种神经系统的遗传性疾病,主要影响神经细胞组织的发育和生长。这些疾病还会产生其他异常情况,如皮肤变化和骨骼畸形。神经纤维瘤病在男女两性以及所有种族和民族中均有发生。科学家们将这些疾病分为1型神经纤维瘤病(NF1)和2型神经纤维瘤病(NF2)。可能还存在其他类型的神经纤维瘤病,但尚未得到确认。根据常染色体显性遗传,近50%的病例显示出明显的家族性疾病倾向,而另外50%的患者根据涉及与显性遗传相同常染色体基因的新染色体突变,显示出无家族病史。口腔病发较为罕见,在大多数不同作者的系列研究中发病率为4%至7%。口腔神经纤维瘤病最常累及的部位是舌头,其次是口腔黏膜和口底;腭部以及上颌骨和下颌骨是该病的罕见发病部位。本文对一例以下颌肿瘤形式出现的神经纤维瘤病临床病例的临床、放射学、组织病理学和治疗方面进行了研究。所报告的临床病例为一名37岁男性,其主要特征为有该疾病的阳性家族史以及口腔黏膜神经纤维瘤。

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