Neurocutaneous Syndromes (Volume 132) (Handbook of Clinical Neurology, Volume 132)

__Neurocutaneous Syndromes__ provides the most updated and comprehensive resource on the disorders that lead to the growth of tumors in various parts of the body, those caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system, and by certain differences in the skin. The most common neurocutaneous syndromes include, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life. As molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes, this book also includes the latest molecular and genetic science. * Provides a comprehensive coverage of neurocutaneous syndromes * Details the latest molecular and genetic science related to neurocutaneous syndromes * Presents a focused reference for clinical practitioners and the neuroscience, clinical neurology, and neurogenetics research communities * Includes updated sections on the latest molecular and genetic science Content: Series Page Page ii Copyright Page iv Handbook of Clinical Neurology 3rd Series Pages v-vi Foreword Page vii Michael J. Aminoff, François Boller, Dick F. Swaab Preface Page ix Monica P. Islam, E. Steve Roach Contributors Pages xi-xii Chapter 1 - Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes Pages 3-8 Kira A. Dies, Mustafa Sahin Chapter 2 - Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy Pages 9-25 Laura Flores-Sarnat, Harvey B. Sarnat Chapter 3 - Acquired neurocutaneous disorders Pages 29-73 Amre Nouh, Jodi Speiser, José Biller Chapter 4 - Neurofibromatosis type 1 Pages 75-86 Jacqueline L. Anderson, David H. Gutmann Chapter 5 - Neurofibromatosis type 2 Pages 87-96 D.G.R. Evans Chapter 6 - Tuberous sclerosis complex Pages 97-109 Monica P. Islam, E. Steve Roach Chapter 7 - Neurocutaneous melanosis Pages 111-117 Monica P. Islam Chapter 8 - Basal cell nevus syndrome or Gorlin syndrome Pages 119-128 Srikanth Thalakoti, Thomas Geller Chapter 9 - PTEN hamartoma tumor syndrome Pages 129-137 Jessica Mester, Charis Eng Chapter 10 - Von Hippel–Lindau disease Pages 139-156 Prashant Chittiboina, Russell R. Lonser Chapter 11 - Sturge–Weber syndrome Pages 157-168 Anne M. Comi Chapter 12 - PHACE(S) syndrome Pages 169-183 Geoffrey L. Heyer Chapter 13 - Hereditary hemorrhagic telangiectasia Pages 185-197 Melissa G. Chung Chapter 14 - Ataxia telangiectasia Pages 199-214 Andreea Nissenkorn, Bruria Ben-Zeev Chapter 15 - Pseudoxanthoma elasticum Pages 215-221 E. Steve Roach, Monica P. Islam Chapter 16 - Blue bleb rubber nevus syndrome Pages 223-230 Fanny Ballieux, Laurence M. Boon, Miikka Vikkula Chapter 17 - Fabry disease Pages 231-248 Raphael Schiffmann Chapter 18 - Hutchinson–Gilford progeria syndrome Pages 249-264 Nicole J. Ullrich, Leslie B. Gordon Chapter 19 - Encephalocraniocutaneous lipomatosis Pages 265-269 Moise L. Levy, Catherine Massey Chapter 20 - Incontinentia pigmenti (Bloch–Sulzberger syndrome) Pages 271-280 Mohan J. Narayanan, Sampathkumar Rangasamy, Vinodh Narayanan Chapter 21 - Hypomelanosis of Ito Pages 281-289 Margie Ream Chapter 22 - Epidermal nevus syndromes Pages 291-316 Sarah Asch, Jeffrey L. Sugarman Chapter 23 - Lipoid proteinosis Pages 317-322 John A. McGrath Index Pages 323-330 Neurocutaneous Syndromes Provides The Most Updated And Comprehensive Resource On The Disorders That Lead To The Growth Of Tumors In Various Parts Of The Body, Those Caused By The Abnormal Development Of Cells In An Embryo And Characterized By The Presence Of Tumors In Various Parts Of The Body And Eyes, Including The Nervous System, And By Certain Differences In The Skin. The Most Common Neurocutaneous Syndromes Include, Neurofibromatosis, Sturge-weber Syndrome, Tuberous Sclerosis, Ataxia-telangiectasia, And Von Hippel-lindau Disease. Symptoms Vary Widely And While Present Early May Not Express Until Later In Life. As Molecular Medicine And Genetic Science Is Continuing To Impact Our Understanding Of Neurocutaneous Syndromes, This Book Also Includes The Latest Molecular And Genetic Science.--publisher's Description. Section 1: Introductory Chapters. Genetics Of Neurocutaneous Disorders: Basic Principles Of Inheritance As They Apply To Neurocutaneous Syndromes -- Phenotype/genotype Correlations In Epidermal Nevus Syndrome As A Neurocristopathy -- Section 2: Neurocutaneous Syndromes. Acquired Neurocutaneous Disorders -- Neurofibromatosis Type 1 -- Neurofibromatosis Type 2 -- Tuberous Sclerosis Complex -- Neurocutaneous Melanosis -- Basal Cell Nevus Syndrome Or Gorlin Syndrome -- Pten Hamartoma Tumor Syndrome -- Von Hippel–lindau Disease -- Sturge–weber Syndrome -- Phace(s) Syndrome -- Hereditary Hemorrhagic Telangiectasia -- Ataxia Telangiectasia -- Pseudoxanthoma Elasticum -- Blue Bleb Rubber Nevus Syndrome -- Fabry Disease -- Hutchinson–gilford Progeria Syndrome -- Encephalocraniocutaneous Lipomatosis -- Incontinentia Pigmenti (bloch-sulzberger Syndrome) -- Hypomelanosis Of Ito -- Epidermal Nevus Syndromes -- Lipoid Proteinosis. Edited By Monica P. Islam And E. Steve Roach. Includes Bibliographical References And Index.

Neurocutaneous Syndromes provides the most updated and comprehensive resource on the disorders that lead to the growth of tumors in various parts of the body, those caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system, and by certain differences in the skin.

The most common neurocutaneous syndromes include, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life.

As molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes, this book also includes the latest molecular and genetic science.

• Provides a comprehensive coverage of neurocutaneous syndromes
• Details the latest molecular and genetic science related to neurocutaneous syndromes
• Presents a focused reference for clinical practitioners and the neuroscience, clinical neurology, and neurogenetics research communities
• Includes updated sections on the latest molecular and genetic science