# 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

PMC · DOI: 10.1055/s-0045-1809664 · Arquivos de Neuro-Psiquiatria · 2025-06-25

## TL;DR

This review suggests a practical way to classify neurocutaneous syndromes based on neurological symptoms to improve diagnosis and treatment.

## Contribution

A new classification system for neurocutaneous syndromes based on neurological manifestations is proposed for clinical use.

## Key findings

- Classifying neurocutaneous syndromes by genetic mechanisms is impractical in routine clinical settings.
- Early recognition of dermatological and neurological signs can guide timely diagnosis and treatment.
- Integrated strategies combining neurological and dermatological assessments are emphasized for better outcomes.

## 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.

## Full-text entities

- **Diseases:** vascular abnormalities (MESH:D014652), neoplastic lesions (MESH:D009062), ataxia (MESH:D001259), epilepsy (MESH:D004827), Neurocutaneous syndromes (MESH:D020752)

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12196566/full.md

## References

70 references — full list in the complete paper: https://tomesphere.com/paper/PMC12196566/full.md

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Source: https://tomesphere.com/paper/PMC12196566