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神经纤维瘤病:历史沿革与当前问题

Neurofibromatosis: chronological history and current issues.

作者信息

Antônio João Roberto, Goloni-Bertollo Eny Maria, Trídico Lívia Arroyo

机构信息

Faculdade Estadual de Medicina, São José do Rio Preto (FAMERP), Hospital de Base, Dermatology Service, São José do Rio Preto, SP, Brazil.

出版信息

An Bras Dermatol. 2013 May-Jun;88(3):329-43. doi: 10.1590/abd1806-4841.20132125.

Abstract

Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.

摘要

神经纤维瘤病由冯·雷克林豪森于1882年首次描述,是一种遗传性疾病,其特征为神经外胚层异常以及系统性进行性受累的临床表现,主要影响皮肤、神经系统、骨骼、眼睛,也可能累及其他器官。该疾病可能有多种表现形式,因人而异。鉴于有关神经纤维瘤病的信息丰富,我们试图以不同方式呈现这些信息。在这项工作的第一部分,我们呈现了一部编年体历史,描述了自关于该疾病的早期出版物问世直至本工作结束时该疾病的演变过程,重点关注那些希望研究此疾病的人可利用的相关方面。在第二部分,我们介绍了构成该疾病的各个方面的最新情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/824d/3754363/61edffbe7980/abd-88-0329-g01.jpg

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