Neurofibromatosis type 1 in a woman patient and its multidisciplinary management
DOI:
https://doi.org/10.52428/20756208.v17i43.407Keywords:
Neurofibromatosis, Neurocutaneous syndrome, NF1 gene, genetic diseaseAbstract
Neurofibromatosis (NF) is a group of hereditary neurocutaneous cancer syndromes that are associated with tumors of the central and peripheral nervous systems. There are 3 subtypes: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis.
NF1, the most representative with 96% of all cases, also known as Von Recklinghausen disease, is inherited in an autosomal dominant manner, due to a mutation in the NF1 gene
Downloads
References
Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS. From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. Am J Med Genet A. 2019 Jun;179(6):1098-1106. doi: https://doi.org/10.1002/ajmg.a.61112
R. Suárez Fernández, L. Trasobaresb, S. Medinab, M. García Rodríguezb. Neurofibromatosis. ElSERVIER [Internet]. julio de 2001; Disponible en: https://www.elsevier.es/es-revista-medicina-integral-63-articulo-neurofibromatosis-13015324
Correa MF. Neurofibromatosis de tipo 1 y 2. Revista del Hospital Italiano. 2019;13.
Neurofibromatosis tipo 1 [Internet]. Pediatriaintegral.es. [citado el 9 de noviembre de 2022]. Disponible en: https://www.pediatriaintegral.es/publicacion-2020-09/neurofibromatosis-tipo-1/
Solaresa D. Vinalb M. Morales-Conejo I. Protocolo de diagnóstico y seguimiento de pacientes adultos con neurofibromatosis tipo 1 en una unidad de referencia española. Elservier. octubre de 2022;222. https://doi.org/10.1016/j.rce.2022.02.001
Manassero Morales G. Guía de práctica clínica de diagnóstico y tratamiento de neurofibromatosis tipo 1. Ministerio de salud Perú, Instituto Nacional de Salud del Niño – San Borja. diciembre de 2020;19.
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Pablo Aparicio Verdun
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License 4.0 that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.