Neurocutaneous Disorders

doi:10.1017/CBO9780511545054

The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians.

This book was highly commended in the BMA Medical Book Competition for 2004

‘The reader is most definitely in for a treat … This edition of Neurocutaneous Disorders provides the essential and forward-looking clinical and genetic data which points the way to the future.’

Roger N. Rosenberg

'Dr. Roach could not have chosen a better quote for the start of chapter one of this excellent book. It is the first overview text of neurocutaneous disorders since Gomez' 1987 book … All the chapters are well written … This book will now be the reference text for neurocutaneous disorders … I would strongly recommend it as a 'must' for the libraries of all department of adult and paediatric neurology, clinical genetics and dermatology.'

Source: Journal of Neurology, Neurosurgery & Psychiatry

- Aa Reduce text
- Aa Enlarge text

View selected items
Save to my bookmarks
Export citations
Download PDF (zip)
Save to Kindle
Save to Dropbox
Save to Google Drive
Save content to
To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to .

To save content items to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Please be advised that item(s) you selected are not available.
You are about to save
Your Kindle email address

Please provide your Kindle email.

@free.kindle.com @kindle.com (service fees apply)

By using this service, you agree that you will only keep content for personal use, and will not openly distribute them via Dropbox, Google Drive or other file sharing services

Page 1 of 2

First
« Prev
1
2
Next »
Last

Contents

Frontmatter
pp i-vi
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

Contents
pp vii-viii
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

Contributors
pp ix-xiv
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

Foreword
pp xv-xvi
- By Roger N. Rosenberg, MD Dallas, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

Preface
pp xvii-xviii
- By E. Steve Roach, Professor of Neurology and Director of the Comprehensive Epilepsy Center Wake Forest University School of Medicine in Winston–Salem, North Carolina, S. Van Miller, Texas Child Neurology, Plano, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

1 - Introduction
pp 1-5
- By E. Steve Roach, Department of Neurology, Wake Forest University School of Medicine, Winston–Salem, NC, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

2 - Genetics of neurocutaneous disorders
pp 6-23
- By Kit-Sing Au, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA, Hope Northrup, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

3 - Clinical recognition
pp 24-41
- By Golder N. Wilson, Department of Pediatrics, Texas Tech University
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

4 - Neurofibromatosis type 1
pp 42-49
- By Joshua Goldstein, Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO, USA, David H. Gutmann, Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

5 - Neurofibromatosis type 2
pp 50-59
- By D. Gareth R. Evans, University Department of Medical and Molecular Genetics, St Mary's Hospital, Manchester, UK
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

6 - Tuberous sclerosis complex
pp 60-65
- By E. Steve Roach, Department of Neurology, Wake Forest University School of Medicine, Winston–Salem, NC, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

7 - von Hippel–Lindau disease
pp 66-70
- By Noel Baker, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA, James A. Armstrong, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

8 - Neurocutaneous melanosis
pp 71-76
- By S. Van Miller, Texas Child Neurology, Plano, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

9 - Nevoid basal cell carcinoma (Gorlin) syndrome
pp 77-87
- By Robert J. Gorlin, Department of Oral Pathology, School of Dentistry, University of Minnesota, MN, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

10 - Epidermal nevus syndromes
pp 88-104
- By Jeffrey L. Sugarman, Departments of Dermatology, University of California, San Francisco, USA, Ilona J. Frieden, Departments of Dermatology and Pediatrics, University of California, San Francisco, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

11 - Multiple endocrine neoplasia type 2
pp 105-111
- By Jeffrey B. Boord, Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA, Lewis S. Blevins, Division of Diabetes, Endocrinology and Metabolism, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

12 - Ataxia–telangiectasia
pp 112-116
- By S. Van Miller, Texas Child Neurology, Plano, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

13 - Incontinentia pigmenti
pp 117-122
- By S. Van Miller, Texas Child Neurology Plano, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

14 - Hypomelanosis of Ito
pp 123-130
- By Ignacio Pascual-Castroviejo, Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

15 - Cowden disease
pp 131-137
- By G. W. Padberg, Department of Neurology, University Hospital Nijmegen, The Netherlands
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

16 - Pseudoxanthoma elasticum
pp 138-143
- By Kenneth H. Neldner, Department of Dermatology, Texas Tech University School of Medicine, Lubbock, Texas, USA, E. Steve Roach, Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

17 - Ehlers–Danlos syndromes
pp 144-149
- By E. Steve Roach, Department of Neurology, Wake Forest University, School of Medicine, Medical Center Blvd., Winston–Salem, NC, USA, Carol F. Zimmerman, Department of Neurology, Wake Forest University, School of Medicine, Medical Center Blvd., Winston–Salem, NC, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

18 - Hutchinson–Gilford progeria syndrome
pp 150-153
- By E. Steve Roach, Department of Neurology, Wake Forest University School of Medicine, Winston–Salem, NC
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

19 - Blue rubber bleb nevus syndrome
pp 154-158
- By John M. Andersen, Department of Pediatrics, Division of Gastroenterology and Nutrition, University of Texas Southwestern Medical School, Children's Medical Center of Dallas, Texas, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

20 - Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu)
pp 159-165
- By Michael Morgan Dowling, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

21 - Hereditary neurocutaneous angiomatosis
pp 166-171
- By Richard Leblanc, Department of Neurology & Neurosurgery, McGill University and Montreal Neurological Institute, Montreal, Canada
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

22 - Cutaneous hemangiomas: vascular anomaly complex
pp 172-178
- By Ignacio Pascual-Castroviejo, Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

23 - Sturge–Weber syndrome
pp 179-185
- By Anthony R. Riela, Texas Child Neurology Plano, TX, USA, E. Steve Roach, Department of Neurology, Wake Forest University School of Medicine, Winston–Salem, NC, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

24 - Lesch–Nyhan syndrome
pp 186-199
- By William L. Nyhan, Department of Pediatrics and Institute for Molecular Genetics, University of California San Diego, La Jolla, California, USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

25 - Multiple carboxylase deficiency
pp 200-205
- By Gerald M. So, Texas Child Neurology, Plano, TX. USA
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation

Page 1 of 2

First
« Prev
1
2
Next »
Last

Metrics

Altmetric attention score

Total number of HTML views: 0

Total number of PDF views: 0 *

Loading metrics...

Total views: 0 *

Loading metrics...

* Views captured on Cambridge Core between #date#. This data will be updated every 24 hours.

Usage data cannot currently be displayed.

Why this information is here

This section outlines the accessibility features of this content - including support for screen readers, full keyboard navigation and high-contrast display options. This may not be relevant for you.

Accessibility Information

Accessibility compliance for the PDF of this book is currently unknown and may be updated in the future.

Neurocutaneous Disorders

Book description

Awards

Reviews

Refine List

Actions for selected content:

Save Search

Contents

Metrics

Altmetric attention score

Full text views

Book summary page views

Accessibility standard: Unknown

Why this information is here

Accessibility Information