Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

  • Martino Ruggieri
  • Ignacio Pascual-Castroviejo
  • Concezio Di Rocco

Table of contents

  1. Front Matter
    Pages I-XXI
  2. Laura Flores-Sarnat, Harvey B. Sarnat
    Pages 1-17
  3. Martino Ruggieri, Meena Upadhyaya, Concezio Di Rocco, Annalia Gabriele, Ignacio Pascual-Castroviejo
    Pages 51-151
  4. Scott Randall Plotkin
    Pages 153-180
  5. Sergiusz Jóźwiak, Nicola Migone, Martino Ruggieri
    Pages 181-227
  6. S. Taylor Jarrell, Edward H. Oldfield, Russell R. Lonser
    Pages 229-248
  7. Martino Ruggieri, Orhan Konez, Ignacio Pascual-Castroviejo
    Pages 249-255
  8. Martino Ruggieri, Concezio Di Rocco, Orhan Konez
    Pages 257-275
  9. Orhan Konez, Martino Ruggieri, Concezio Di Rocco
    Pages 277-285
  10. Ignacio Pascual-Castroviejo, Orhan Konez, Concezio Di Rocco, Martino Ruggieri
    Pages 287-309
  11. Haneen Sadick, Maliha Sadick, Karl Hörmann
    Pages 311-321
  12. Maria Carmen Boente, Maria Rosa Cordisco
    Pages 333-344
  13. Martino Ruggieri, Orhan Konez, Concezio Rocco
    Pages 345-352
  14. Leida B. Rozeman, Yvonne M. Schrage, Judith V. M. G. Bovée, Pancras C. W. Hogendoorn
    Pages 353-362
  15. Ignacio Pascual-Castroviejo, Martino Ruggieri
    Pages 363-385
  16. Carmelo Schepis
    Pages 386-390
  17. Ignacio Pascual-Castroviejo, Martino Ruggieri
    Pages 391-406
  18. Marimar Saez-De-Ocariz, Luz Orozco-Covarrubias, Carola Duràn-McKinster, Ramòn Ruiz-Maldonado
    Pages 407-426

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.


Hypomelanosis of Ito Nervous System Neurofibromatoses Phakomatoses Sturge Weber Syndrome Tuberous Sclerosis Xeroderma pigmentosum genetics von Hippel-Lindau Disease von Recklinghausen's Disease

Editors and affiliations

  • Martino Ruggieri
    • 1
  • Ignacio Pascual-Castroviejo
    • 2
  • Concezio Di Rocco
    • 3
  1. 1.Institute of Neurological ScienceNational Research CouncilCataniaItaly
  2. 2.University Hospital La PazMadridSpain
  3. 3.Institute of NeurosurgeryCatholic University of the Sacred HeartRomeItaly

Bibliographic information

  • DOI
  • Copyright Information Springer Vienna 2008
  • Publisher Name Springer, Vienna
  • eBook Packages Medicine
  • Print ISBN 978-3-211-21396-4
  • Online ISBN 978-3-211-69500-5
  • About this book