Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach

541 Pages·2022·20.285 MB·English

by  Christos P. Panteliadis, Ramsis Benjamin, Christian Hagel

Neurocutaneous
Disorders
A Clinical, Diagnostic and
Therapeutic Approach
Christos P. Panteliadis
Ramsis Benjamin
Christian Hagel
Editors
Third Edition
123
Neurocutaneous Disorders
Christos P. Panteliadis
Ramsis Benjamin • Christian Hagel
Editors
Neurocutaneous Disorders
A Clinical, Diagnostic and Therapeutic
Approach
Third Edition
Editors
Christos P. Panteliadis Ramsis Benjamin
Department of Paediatric Neurology and Department of Neurology
Developmental Neurology University of Washington
Aristotle University of Thessaloniki Seattle, WA, USA
Thessaloniki, Greece
Christian Hagel
Institute of Neuropathology
University Medical Center
Hamburg-Eppendorf
Hamburg, Germany
2nd edition: © Elsevier GmbH 2016
ISBN 978-3-030-87892-4 ISBN 978-3-030-87893-1 (eBook)
https://doi.org/10.1007/978-3-030-87893-1
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Switzerland AG 2022
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Preface to the Third Edition
Six years have passed since the release of the second edition of the book
Neurocutaneous Disorders—A Clinical, Diagnostic and Therapeutic Approach.
The good response from the readership on the one hand, and the quickly expanding
knowledge about causative genetic alterations, pathophysiology, possibilities of
early diagnosis, better diagnostic criteria, additional clinical characteristics, man-
agement and rehabilitation have driven the editors to publish a new edition.
New distinguished authors from around the world, along with many authors of
the second edition, have provided sharper and more acute dimensions to the overall
upgraded version of this book. All chapters have been revised and updated, evidence-
based therapy has been added wherever possible and new chapters complement the
multifaceted subject of the book. A number of new chapters has been included,
providing an overview on genetics, sonography and neuro-imaging, and focusing on
disease entities that were not included before such as Incontinentia pigmenti and
Epidermal naevus syndrome.
The editors would like to thank all the expert authors for their invaluable input,
cooperation and patience towards the successful realization of this project. Many
thanks to the publisher Springer Medicine Books, Continental Europe and UK, for
the unwavering commitment in disseminating medical knowledge. Special thanks
to Dr. med. Raymund Mürbeth for his continued assistance in proofreading, litera-
ture review and administrative issues.
Thessaloniki, Greece Christos P. Panteliadis
Seattle, WA, USA Ramsis Benjamin
Hamburg, Germany Christian Hagel
v
Preface (Parts from First Edition)
The term “neurocutaneous” combines the Greek word “νεύρο” and the Latin word
“cutaneus”. The first case of neurofibromatosis, according to Murphy et al., could
have existed during the Scythian period (700–200 B.C.) in a woman from the terri-
tory of Ascania (modern Azerbaijan) with peculiar skin lesions on the scalp. Another
possible case of neurofibromatosis, from eighteenth to nineteenth century was noted
by Knusel and Browman. In the medical literature, five other possible cases have
been mentioned between the fifteenth- and the eighteenth century A.D. in rough
drawings and icons (1350–1793). The first rough sketches of the disease, however,
could be dated back to 1350 in the “Book of the Nature” by Conrad von Megenberg,
a Bavarian naturalist and philosopher. The second description comes from the book
“Des Monstres et Prodiges” in 1585 by the French anatomist and surgeon Ambroise
Paré. Several detailed illustrations followed along with a reference from Ulisse
Aldrovandi in the book “Monstrorum Historia”, which was published posthumously
in 1642. The first definitive description of neurofibromatosis was made by the phy-
sician Wilhelm G. Tilesius von Tilenau in 1793 in one of his patients, the “Wart Man”.
Our purpose was to put forth in a single volume a comprehensive review of the
historical perspective, the clinical features, the current understanding in the genetic,
pathogenesis of each disease and the diagnostic and therapeutic strategies associ-
ated with these challenging disorders.
This edition attempts to convey that neurocutaneous syndromes and haemangio-
mas should fall under the same rubric of “Skin and CNS Disorders”. Our philoso-
phy is that both entities have similar clinical features, including their increased
tendency towards certain types of malignancy. We thank the contributing authors
and researchers who provided clinically helpful photos, their immense personal
experience and ideas, not to mention their invaluable time and information. Our
effort and your encouragement to learn about neurocutaneous syndromes spurred us
vii
viii Preface (Parts from First Edition)
to improve this edition. This book is a collaboration of physicians and scientists
from Greece, Germany and the USA, underscoring that knowledge has no borders.
Thessaloniki, Greece Christos P. Panteliadis
Templeton, CA, USA Ramsis Benjamin
Heilbronn, Germany Hansjörg Cremer
Hamburg, Germany Christian Hagel
Freiburg, Germany Omran Heymut
2007
Preface to the Second Edition
Eight years have passed since the release of the first edition of the book
Neurocutaneous Disorders/Haemangiomas—A Clinical and Diagnostic Approach,
during which time the scientific knowledge concerning the management and treat-
ment of these rare disorders has greatly expanded. Therefore, a second edition
seemed inevitable in order to incorporate all the emerging data and nuances. New
distinguished authors from around the world, along with the authors of the first edi-
tion, have provided sharper and more acute dimensions to the overall upgraded
version of the book. All chapters have been revised, brought up-to-date, and new
chapters have been added. The editors would like to thank all the expert authors for
their invaluable input, the publisher Elsevier for its unwavering commitment in dis-
seminating medical knowledge and the countless contributors for their cooperation
and patience to the successful realization of this project. A special thanks is extended
to Christos Livanos for his relentless administrative assistance.
Thessaloniki, Greece Christos P. Panteliadis
Hamburg, Germany Christian Hagel
Duarte, CA, USA Ramsis Benjamin
2016
ix
Contents
Part I A etiology and Diagnostics of Neurocutaneous Disorders
1 Genetics of Neurocutaneous Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Eric Legius
2 Superimposed Mosaicism in Neurocutaneous Syndromes . . . . . . . . . . 17
Rudolf Happle
3 Neuroimaging and Sonography of Neurocutaneous Disorders . . . . . . 25
Christos P. Panteliadis, Christian Hagel, Barbara Hofstadler,
Martin Bendszus, Tim Godel, Summer Kaplan, and Alireza Zandifar
4 Neuropathology of Neurocutaneous Disorders . . . . . . . . . . . . . . . . . . . 53
Christian Hagel, Jakob Matschke, and Klaus Kuchelmeister
Part II D evelopmental Malformations
5 Sturge-Weber Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
Anne M. Comi
6 Ataxia-Telangiectasia (Louis-Bar Syndrome) . . . . . . . . . . . . . . . . . . . . 97
Christos P. Panteliadis and Ramsis Benjamin
7 Hypomelanosis of Ito (Incontinentia Pigmenti Achromians) . . . . . . . 105
Christos P. Panteliadis
8 Incontinentia Pigmenti . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 111
Lukas Kieswetter and Elena Pope
9 Klippel-Trénaunay Syndrome (Klippel- Trénaunay- Weber
Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 135
Christos P. Panteliadis
10 Epidermal Nevus Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143
Michael Waul, Daniel M. Klufas, and Jeffrey L. Sugarman
xi
xii Contents
11 Neurocutaneous Melanosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181
Christos P. Panteliadis
12 Hereditary Haemorrhagic Telangiectasia
(Osler-Weber-Rendu Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 191
Ramsis Benjamin
13 Cowden Disease, Lhermitte-Duclos Disease,
and Bannayan-Riley-Ruvalcaba Syndrome . . . . . . . . . . . . . . . . . . . . . 199
Christos P. Panteliadis
14 Spinal Arteriovenous Metameric Syndrome
(Cutaneomeningospinal Angiomatosis or Cobb Syndrome) . . . . . . . . 205
Ramsis Benjamin
15 Cutis Marmorata Telangiectatica Congenita
(Van Lohuizen’s Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 209
Christos P. Panteliadis
16 Encephalocraniocutaneous Lipomatosis
(Haberland Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 215
Christian Hagel and Christos P. Panteliadis
17 LEOPARD Syndrome (Multiple Lentigines;
Lentiginosis Profusa) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 221
Christian Hagel and Christos P. Panteliadis
18 MIDAS Syndrome (Microphthalmia with Linear Skin Defects) . . . . 227
Christian Hagel and Christos P. Panteliadis
19 Oculocerebrocutaneous Syndrome
(Delleman-Oorthuys Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 231
Christos P. Panteliadis
20 Oral-Facial-Digital Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 235
Christian Hagel and Christos P. Panteliadis
21 PHACE Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 239
Christos P. Panteliadis
22 Proteus Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 247
Christos P. Panteliadis and Reinhard E. Friedrich
23 Wyburn-Mason Syndrome
(Bonnet- Dechaume- Blanc Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . 255
Christos P. Panteliadis and Christian Hagel
24 Cerebello-Trigemino-Dermal Dysplasia
(Gomez-López-Hernández Syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . 259
Christos P. Panteliadis