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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes pp 1–17Cite as

Embryology of Neurocutaneous Syndromes

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Abstract

The neurocutaneous diseases and neurocutaneous syndromes are a broad group of congenital disorders with diverse genetic, clinical and pathological features that share in common developmental lesions of the skin and of the central and peripheral nervous systems. Subcutaneous and systemic involvement is common. In many of these conditions another feature is a tendency to develop tumors in multiple sites of the body. Many of these disorders are hamartomatous in nature, and produce benign tumors, but patients also may develop malignant tumors. The etiology has been identified in several conditions: such cases are properly referred to as neurocutaneous diseases. In the case of neurofibromatosis and tuberous sclerosis complex, neoplasias can be explained because the genes responsible for the disease also are tumor-suppressor genes. Many neurocutaneous syndromes manifest overgrowth in one area, region or one side of the body, usually progressive (Cohen et al. 2001). Asymmetry and hemimegalencephaly are common features in several neurocutaneous syndromes (Flores-Sarnat 2002). The clinical features may be present at birth or become manifest later.

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Authors and Affiliations

  1. Division of Pediatric Neurology, Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, Alberta, AB T3B 6A8, Canada

    Laura Flores-Sarnat MD & Harvey B. Sarnat MD, FRCPC

  2. University of Calgary Faculty of Medicine, Calgary, Alberta, Canada

    Harvey B. Sarnat MD, FRCPC

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  1. Laura Flores-Sarnat MD
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  2. Harvey B. Sarnat MD, FRCPC
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Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Flores-Sarnat, L., Sarnat, H.B. (2008). Embryology of Neurocutaneous Syndromes. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_1

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