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Neurofibromatosis: chronological history and current issues*

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....

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Detalles Bibliográficos
Autores principales: Antônio, João Roberto, Goloni-Bertollo, Eny Maria, Trídico, Lívia Arroyo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754363/
https://www.ncbi.nlm.nih.gov/pubmed/23793209
http://dx.doi.org/10.1590/abd1806-4841.20132125
Descripción
Sumario: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.