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Neurocutaneous syndromes or phakomatoses are a heterogenous subset of hereditary diseases with a characteristic involvement of the central and peripheral nervous system. Through different mechanisms, following a complex genetic background, each of these diseases is associated with an increased risk of cancer, within and outside the nervous system. In this chapter the most common neurocutaneous diseases are described, with a focus on the associated tumors, in particular in the central and peripheral nervous system and their typical neuroradiological appearance and course. This information is useful in the diagnosis and follow-up of individual diseases, taking into account the updated diagnostic criteria.

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Central Nervous System Tumors in Neurocutaneous Syndromes from Pediatric to Adult Age: A Neuroimaging Perspective

  • 章节

  • 发表日期：

    2024年

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  • Manuela Napoli,
  • Giovanna Di Cecco,
  • Serena d’Aniello,
  • Lara Bonacini,
  • Marialuisa Zedde,
  • Rosario Pascarella

摘要

Neurocutaneous syndromes or phakomatoses are a heterogenous subset of hereditary diseases with a characteristic involvement of the central and peripheral nervous system. Through different mechanisms, following a complex genetic background, each of these diseases is associated with an increased risk of cancer, within and outside the nervous system. In this chapter the most common neurocutaneous diseases are described, with a focus on the associated tumors, in particular in the central and peripheral nervous system and their typical neuroradiological appearance and course. This information is useful in the diagnosis and follow-up of individual diseases, taking into account the updated diagnostic criteria.