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Neurocutaneous Disorders

Phakomatoses & Hamartoneoplastic Syndromes

  • Book
  • © 2008

Overview

Editors:
  1. Martino Ruggieri

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

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    You can also search for this editor in PubMed   Google Scholar

  2. Ignacio Pascual-Castroviejo

    1. University Hospital La Paz, Madrid, Spain

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    You can also search for this editor in PubMed   Google Scholar

  3. Concezio Rocco

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

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  • Written by internationally renowned clinicians and researchers

  • Many recently discovered diseases described for the first time

  • Includes supplementary material: sn.pub/extras

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Table of contents (72 chapters)

  1. Front Matter

    Pages I-XXI
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  2. Embryology of Neurocutaneous Syndromes

    • Laura Flores-Sarnat, Harvey B. Sarnat
    Pages 1-17

  3. Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome

    • Ignacio Pascual-Castroviejo
    Pages 19-49

  4. Neurofibromatosis type 1 & Related Disorders

    • Martino Ruggieri, Meena Upadhyaya, Concezio Di Rocco, Annalia Gabriele, Ignacio Pascual-Castroviejo
    Pages 51-151

  5. Neurofibromatosis type 2 and related disorders

    • Scott Randall Plotkin
    Pages 153-180

  6. The Tuberous Sclerosis Complex

    • Sergiusz Jóźwiak, Nicola Migone, Martino Ruggieri
    Pages 181-227

  7. Von Hippel-Lindau Disease

    • S. Taylor Jarrell, Edward H. Oldfield, Russell R. Lonser
    Pages 229-248

  8. Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena)

    • Martino Ruggieri, Orhan Konez, Ignacio Pascual-Castroviejo
    Pages 249-255

  9. Klippel-Trenaunay Syndrome

    • Martino Ruggieri, Concezio Di Rocco, Orhan Konez
    Pages 257-275

  10. Parkes Weber Syndrome

    • Orhan Konez, Martino Ruggieri, Concezio Di Rocco
    Pages 277-285

  11. Sturge-Weber Syndrome

    • Ignacio Pascual-Castroviejo, Orhan Konez, Concezio Di Rocco, Martino Ruggieri
    Pages 287-309

  12. Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia)

    • Haneen Sadick, Maliha Sadick, Karl Hörmann
    Pages 311-321

  13. Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)

    • Pablo Lapunzina, Jill Clayton-Smith
    Pages 323-332

  14. Blue Rubber Bleb Nevus Syndrome (Brbns)

    • Maria Carmen Boente, Maria Rosa Cordisco
    Pages 333-344

  15. Wyburn-Mason Syndrome

    • Martino Ruggieri, Orhan Konez, Concezio Rocco
    Pages 345-352

  16. Maffucci Syndrome

    • Leida B. Rozeman, Yvonne M. Schrage, Judith V. M. G. Bovée, Pancras C. W. Hogendoorn
    Pages 353-362

  17. Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism)

    • Ignacio Pascual-Castroviejo, Martino Ruggieri
    Pages 363-385

  18. Phylloid Hypomelanosis

    • Carmelo Schepis
    Pages 386-390

  19. Incontinentia Pigmenti

    • Ignacio Pascual-Castroviejo, Martino Ruggieri
    Pages 391-406

  20. Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS)

    • Marimar Saez-De-Ocariz, Luz Orozco-Covarrubias, Carola Duràn-McKinster, Ramòn Ruiz-Maldonado
    Pages 407-426
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Keywords

About this book

Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.

Editors and Affiliations

  • Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  • University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  • Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Rocco

About the editors

Dr. Martino Ruggieri, Institute of Neurological Science (ISN), National Research Council (CNR), Catania

Prof. Dr. Ignacio Pascual-Castroviejo, Professor of Paediatric Neurology, Madrid

Prof. Dr. Concezio Di Rocco, Instituto di Neurochirurgica, Univ. Cattolica del Sacro Cuore, Roma (Editor-in-Chief "Child's Nervous System")

Bibliographic Information

  • Book Title: Neurocutaneous Disorders

  • Book Subtitle: Phakomatoses & Hamartoneoplastic Syndromes

  • Editors: Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Rocco

  • DOI: https://doi.org/10.1007/978-3-211-69500-5

  • Publisher: Springer Vienna

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer-Verlag Vienna 2008

  • Hardcover ISBN: 978-3-211-21396-4Published: 22 September 2008

  • Softcover ISBN: 978-3-7091-1907-5Published: 23 August 2016

  • eBook ISBN: 978-3-211-69500-5Published: 01 October 2009

  • Edition Number: 1

  • Number of Pages: XXI, 1070

  • Topics: Neurology, Human Genetics, Pediatrics, Neurosurgery, Orthopedics, Dermatology

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