Neurocutaneous Disorders

1. Front Matter

   Pages I-XXI

   PDF

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

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

• 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

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")

Policies and ethics