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CC BY 4.0 · Arq Neuropsiquiatr 2025; 83(07): s00451809664
DOI: 10.1055/s-0045-1809664
Review Article

A diagnostic approach to neurocutaneous syndromes

Authors

  • Sofia Mônaco Gama 

    1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.

  • João Vitor Gerdulli Tamanini 

    1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.

  • Marianna Pinheiro Moraes de Moraes 

    1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.

  • Thiago Yoshinaga Tonholo Silva 

    1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.

  • Fernanda Teresa de Lima 

    2   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Ginecologia, São Paulo SP, Brazil.

  • José Luiz Pedroso 

    1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.

  • Orlando Graziani Povoas Barsottini 

    1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.
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Abstract

Neurocutaneous syndromes are a group of genetically and phenotypically diverse disorders that primarily affect the skin, central and peripheral nervous systems, and eyes. Classifying neurocutaneous syndromes based on genetic mechanisms often proves impractical in routine clinical settings. This review proposes a practical classification of neurocutaneous syndromes based on their neurological manifestations, including neoplastic lesions, epilepsy, vascular abnormalities, and ataxia. In this narrative review, we examined original articles and reviews that explore neurocutaneous syndromes, published between January 2000 and July 2024. The figures are part of a personal collection of the authors. Early recognition of dermatological and neurological hallmarks can guide diagnosis and prompt timely evaluation and treatment. Therefore, a thorough understanding of neurocutaneous syndromes highlights the importance of integrated diagnostic strategies that combine neurological and dermatological assessments.

Keywords

Neurocutaneous Syndromes - Neurofibromatoses - Tuberous Sclerosis

Authors' Contributions

Conceptualization: SMG, JVGT, MPMM, TYTS, JLP, OGPB; Methodology: SMG, JVGT, JLP, OGPB; Project administration: JLP, OGPB; Writing – original draft: SMG, JVGT; Writing – review & editing: MPMM, TYTS, FTL, JLP, OGPB.


Data Statement Availability

Data are available on demand.


Editor-in-Chief: Hélio A. G. Teive https://orcid.org/0000-0003-2305-1073.


Associate Editor: Eduardo Genaro Mutarelli https://orcid.org/0000-0003-3859-4150.




Publication History

Received: 23 December 2024

Accepted: 13 April 2025

Article published online:
25 June 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Sofia Mônaco Gama, João Vitor Gerdulli Tamanini, Marianna Pinheiro Moraes de Moraes, Thiago Yoshinaga Tonholo Silva, Fernanda Teresa de Lima, José Luiz Pedroso, Orlando Graziani Povoas Barsottini. A diagnostic approach to neurocutaneous syndromes. Arq Neuropsiquiatr 2025; 83: s00451809664.
DOI: 10.1055/s-0045-1809664