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Published on: October 7, 2021
A diagnostic approach to neurocutaneous syndromes
Sofia Mônaco Gama1, João Vitor Gerdulli Tamanini1, Marianna Pinheiro Moraes de Moraes1
1Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.
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.
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