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Neurocutaneous Disorders

A Clinical, Diagnostic and Therapeutic Approach

  • Provides extensive data on congenital and hereditary syndromes that manifest in the nervous system and skin
  • Includes historical perspectives, clinical features, diagnosis and therapeutic strategies
  • Also addresses the biochemical, molecular, and genetic basis of the disorders

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Table of contents (52 chapters)

  1. Front Matter

    Pages i-xxiii
  2. Aetiology and Diagnostics of Neurocutaneous Disorders

    1. Front Matter

      Pages 1-1
    2. Genetics of Neurocutaneous Syndromes

      • Eric Legius
      Pages 3-16
    3. Neuroimaging and Sonography of Neurocutaneous Disorders

      • Christos P. Panteliadis, Christian Hagel, Barbara Hofstadler, Martin Bendszus, Tim Godel, Summer Kaplan et al.
      Pages 25-52
    4. Neuropathology of Neurocutaneous Disorders

      • Christian Hagel, Jakob Matschke, Klaus Kuchelmeister
      Pages 53-80
  3. Developmental Malformations

    1. Front Matter

      Pages 81-81
    2. Sturge-Weber Syndrome

      • Anne M. Comi
      Pages 83-96
    3. Ataxia-Telangiectasia (Louis-Bar Syndrome)

      • Christos P. Panteliadis, Ramsis Benjamin
      Pages 97-104
    4. Hypomelanosis of Ito (Incontinentia Pigmenti Achromians)

      • Christos P. Panteliadis
      Pages 105-109
    5. Incontinentia Pigmenti

      • Lukas Kieswetter, Elena Pope
      Pages 111-133
    6. Epidermal Nevus Syndromes

      • Michael Waul, Daniel M. Klufas, Jeffrey L. Sugarman
      Pages 143-180
    7. Neurocutaneous Melanosis

      • Christos P. Panteliadis
      Pages 181-189
    8. Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)

      • Christian Hagel, Christos P. Panteliadis
      Pages 215-219
    9. LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa)

      • Christian Hagel, Christos P. Panteliadis
      Pages 221-226

About this book

This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise.

Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders.

The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.

Editors and Affiliations

  • Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  • Department of Neurology, University of Washington, Seattle, USA

    Ramsis Benjamin

  • Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

About the editors

Prof. Dr. med. Christos P. Panteliadis. Medical education at Universities of Vienna (Austria) and Kiel (Germany). Training as pediatrician at the hospitals of Thessaloniki (Greece) and principal in St. Georg Hospital Hamburg (Germany). Specialisation in Neuropaediatrics in Frankfurt, Hamburg and other Medical Schools in Germany. Professor of Paediatrics, Paediatric Neurology and Developmental Medicine at Aristotle University, Thessaloniki, and Director of the 3rd Pediatric Department at Ippokraton Hospital Thessaloniki. Administrative work in the health system in northern Greece. Retired in 2010. Since then been active at a private clinic. Has organized several conferences, workshops, symposia and further education courses; Has established the Society of Paediatric Neurology in Greece and was the president of this society for many years, and president of Northgreece paediatricians. Is the author of several articles and textbooks for students and paediatricians, neuropaediatricians and neurologists in Greece, and in Editorial board of Medical journals. Has edited three editions of “Paediatric Neurology” in English; three editions of “Neuropaediatrie - Evidenzbasierte Therapie” in German; two editions of “Neurocutaneous Disorders - A Clinical, Diagnostic and Therapeutic Approach” in English; and three editions of “Cerebral Palsy - A Multidisciplinary Approach” in English.

Ramsis Benjamin, MD, MPH. Associate Clinical Professor at the University of Washington, in Seattle, and Associate Professor at Oregon Health and Science University, in Portland, Oregon, USA. Practices General Neurology, Adolescents and Adults, and Electrophysiology at Kootenai Health, Coeur d'Alene, Idaho.

Prof. Dr. med. Christian Hagel. Medical education at the University of Hamburg (Germany) and Newcastle upon Tyne (United Kingdom), Senior consultant of neuropathology at the Institute of Neuropathology, University of Hamburg Medical School, Head of the German Reference Centre of CSF-cytology for brain tumours in childhood.  Research areas neuro-oncology, rare neurological diseases, vasculopathies.  

Bibliographic Information

  • Book Title: Neurocutaneous Disorders

  • Book Subtitle: A Clinical, Diagnostic and Therapeutic Approach

  • Editors: Christos P. Panteliadis, Ramsis Benjamin, Christian Hagel

  • DOI: https://doi.org/10.1007/978-3-030-87893-1

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022

  • Hardcover ISBN: 978-3-030-87892-4Published: 04 February 2022

  • Softcover ISBN: 978-3-030-87895-5Published: 04 February 2023

  • eBook ISBN: 978-3-030-87893-1Published: 03 February 2022

  • Edition Number: 3

  • Number of Pages: XXIII, 550

  • Number of Illustrations: 17 b/w illustrations, 118 illustrations in colour

  • Topics: Neurology, Pediatrics, Ophthalmology, Dermatology, Imaging / Radiology

Buy it now

Buying options

eBook USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access