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
{"title":"A diagnostic approach to neurocutaneous syndromes.","authors":"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","doi":"10.1055/s-0045-1809664","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 7","pages":"1-14"},"PeriodicalIF":1.6000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12196566/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos de neuro-psiquiatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0045-1809664","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/25 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍:
Arquivos de Neuro-Psiquiatria is the official journal of the Brazilian Academy of Neurology. The mission of the journal is to provide neurologists, specialists and researchers in Neurology and related fields with open access to original articles (clinical and translational research), editorials, reviews, historical papers, neuroimages and letters about published manuscripts. It also publishes the consensus and guidelines on Neurology, as well as educational and scientific material from the different scientific departments of the Brazilian Academy of Neurology.
The ultimate goals of the journal are to contribute to advance knowledge in the areas of Neurology and Neuroscience, and to provide valuable material for training and continuing education for neurologists and other health professionals working in the area. These goals might contribute to improving care for patients with neurological diseases. We aim to be the best Neuroscience journal in Latin America within the peer review system.