Literature DB >> 28237041

Diagnostic and Prognostic Relevance of the Cutaneous Manifestations of Neurofibromatosis Type 2.

A Plana-Pla1, I Bielsa-Marsol2, C Carrato-Moñino2.   

Abstract

Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease. Identification of these lesions, when present, can facilitate diagnosis.
Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

Entities:  

Keywords:  Café-au-lait spots; Hybrid tumor; Manchas café con leche; Neurofibromatosis tipo 2; Neurofibromatosis type 2; Plexiform schwannoma; Schwannoma; Schwannoma plexiforme; Tumor híbrido

Mesh:

Year:  2017        PMID: 28237041     DOI: 10.1016/j.ad.2016.12.007

Source DB:  PubMed          Journal:  Actas Dermosifiliogr        ISSN: 0001-7310


  2 in total

1.  Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.

Authors:  S Legoupil; D Bessis; F Picard; S Mallet; J Mazereeuw; A Phan; D Dupin-Deguine; M Kalamarides; C Chiaverini
Journal:  Orphanet J Rare Dis       Date:  2022-06-21       Impact factor: 4.303

2.  Neurofibromatosis type 2 initially presenting as a preauricular mass: a case report.

Authors:  Wei-Che Lan; Yu Aoh; Rui-Yun Chen; Hui-Chi Tien; Chia-Der Lin
Journal:  J Otolaryngol Head Neck Surg       Date:  2020-06-26
  2 in total

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