Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes PDF
Preview Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes
SpringerWienNewYork Martino Ruggieri Ignacio Pascual-Castroviejo Concezio Di Rocco (Eds.) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes SpringerWienNewYork Martino Ruggieri Institute ofNeurological Science,National Research Council,Catania,Italy Ignacio Pascual-Castroviejo University Hospital La Paz,Madrid,Spain Concezio Di Rocco Institute ofNeurosurgery,Catholic University ofthe Sacred Heart,Rome,Italy This work is subject to copyright. All rights are reserved,whether the whole or part ofthe material is concerned,specifically those oftranslation,reprinting,re-use of illustrations,broadcasting,reproduction by photocopying machines or similar means,and storage in data banks. Product Liability:The publisher can give no guarantee for all the information contained in this book.This does also refer to information about drug dosage and application thereof.In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature.The use ofregistered names,trademarks,etc.in this publication does not imply,even in the absence ofa specific statement,that such names are exempt from the relevant protective laws and regulations and therefore free for general use. © 2008 Springer-Verlag/Wien Printed in Germany SpringerWienNewYork is part ofSpringer Science (cid:2)Business Media springer.com Typesetting:Thomson Press Ltd.,Chennai,India Printing:Strauss GmbH,69509 Mörlenbach,Deutschland Printed on acid-free and chlorine-free bleached paper SPIN:10997437 With numerous figures,some ofthem in colour Library ofCongress Control Number:2006937726 ISBN 978-3-211-21396-4 SpringerWienNewYork Martino Ruggieriis First Researcher in Paediatrics at the Institute of Neurological Science of the Italian National Research Council and at the Department of Paediatrics of the University of Catania,Italy and Associate Professor of Paediatrics (board certified,2006).He graduated at the University of Catania and completed his postgraduate training at the Departments of Medical Genetics and Paediatrics, Churchill and John Radcliffe Hospitals,University of Oxford,UK and of Neurology and Neurogenetics,Massachusetts General Hospital,Harvard Medical School,Boston, USA.He trained on neurocutaneous disorders along with professors Lorenzo Pavone in Catania,Italy and Susan M.Huson in Oxford,UK.His postgraduate thesis was on the neurological manifestations of hypomelanosis of Ito and his PhD thesis on the different forms of neurofibromatosis.He is the International Deputy Editor of the Journal of Brachial Plexus and Peripheral Nerve Injuryand the International Associate Editor (Paediatric Neurology) of Child’s Nervous System.He is editor of a textbook of general paediatric neurology (in Italian).He currently runs in Catania,Italy a clinical and research programme devoted to neurocutaneous diseases.Research interests include the clinical manifestations of the different forms of neurofibromatosis in childhood,mosaic neurocutaneous phenotypes and paediatric multiple sclerosis. Ignacio Pascual-Castroviejohas been associate Professor of Paediatrics (Paediatric Neurology) at the University of Madrid and Chairman of Paediatric Neurology at the University Hospital “La Paz”,Madrid,Spain from 1965 to 2004.He graduated at the Complutensis University of Madrid in 1962.He completed his postgraduate training in Madrid,in Würzbourg (Germany) and in Strasbourg (France).He obtained the board in Neurology in 1965 and the board in Paediatrics in 1971.He got his PhD in 1968 with a thesis on “Cerebral malformations and the Classification of corpus callosum and septum pellucidum malformations by pneumoencephalography”.He has been one of the founding members of the International Child Neurology Association (ICNA) (1973) and the European Society of Neuroradiology (ESNR) (1969) and the President of the Spanish Society of Neurology and Spanish National Commission of Neurology.He is honorary member of several International Scientific Societies of Neurology,Neuroradiology,Paediatric Neurology and Paediatrics.He is member of the board of several international journals of Paediatric Neurology.He is editor of many textbooks (in Spanish and English) on general paediatric neurology,spinal tumours in infancy,attention-deficit hyperactivity disorder (ADHD),neurocutaneous disorders and contributed with chapters in the most acclaimed books on Neurocutaneous Disorders.Research interests include general paediatric neurology, neurocutaneous disorders,ADHD,vascular pathology,and neuroradiology. Concezio Di Roccois Professor and Chairman of Paediatric Neurosurgery at the Catholic University of the Sacred Heart in Rome and Director of the Training Programme in Neurosurgery at the “Gemelli”University Hospital,Rome,Italy.He graduated at the Catholic University in Rome and completed his postgraduate trainings in Neurosurgery,Paediatric Neurosurgery and Paediatrics at the University of Genoa and at the North-western University Medical School,Children’s Memorial Hospital of Chicago,USA. He has been President of the International Society for Paediatric Neurosurgery,European Society for Paediatric Neurosurgery and Vice- President of the European Association of Neurosurgical Societies.Currently,he is Chairman of the Paediatric Committee of the World Federation of Neurosurgical Societies and member of the teaching faculty at INI-China in Beijing.Professor Di Rocco is the Editor-in Chief of Child’s Nervous Systemand member of board of several international journals of Neurosurgery and Neurosciences.Research interests include brain malformations, hydrocephalus,tumours,craniosynostoses,and neurocutaneous disorders. To our wonderful Wives Agata, Alicia and Paola Foreword NEUROCUTANEOUS DISORDERS M. Ruggieri, I. Pascual-Castroviejo, and C. Di Rocco Phakomatoses and hamartoneoplastic diseases The striking association of some neurological diseases with cutaneous abnormalities has long attracted the attention of physicians.Many such associations have been recognized; many are relatively rare conditions but,collectively,they ac- count for a significant proportion of the neurological disorders especially in children.Their clinical manifestations are polymorphous,they may involve many others organs or systems in addition to skin and nervous system and they may be difficult to diagnose.Their clinical interest,their causes and mechanisms are closely related to several major basic bio- logical problems and their study has contributed to shed light on such basic biological issues as the growth regulation and differentiation of tissues, opening new perspectives and leading to the introduction of new ideas and revision of others.Thus,the concepts that skin and CNS are entirely derived from the ectoderm had to be modified as mesoderm and endoderm are also involved.Likewise,the view that each of the three-germ layers is committed to generate specific derivatives had to be qualified as no developmental function appears to be restricted to a single layer and developmental genes appear to exert their specifying and signalling functions also on other layers.The essential role of the neural crest whose cells are of single origin as the major source of many neurocutaneous disorders is being now generally accepted. In the past few decades,molecular genetic studies have permitted considerable progresses in understanding the causes, mechanisms and classification, and new discoveries continue to challenge time-honoured concepts and generate new ones for example that of somatic mosaicism. The neurocutaneous diseases have also proved to be of broad biological and clinical importance as their study may help unravel some of the causes and mechanisms of tumour formation and understand many aspects of oncogen- esis,clearly a major theme of current and future investigation with major implications for public health and medical practice. The amount of recent acquisitions,both on the clinical and basic aspects of the neurocutaneous diseases,has grown tremendously especially as a result of the recent development in neuroimaging and molecular genetics and it is now diffi- cult to find an overall synthetic view of the complexities of this group of conditions.This difficulty makes the present work that brings together up to date data both timely and of considerable value for the many different categories of physicians and scientists that may become involved with these disorders. Indeed,the general panorama of the neurocutaneous diseases is rapidly changing.New conditions have been recog- nized and the respective frequencies of the various types have changed with recent studies:for example the relatively re- cently described PHACE syndrome is now considered the commonest of all the neurocutaneous disorders. There is no universal agreement on a definition of the neurocutaneous diseases.Early work mainly concerned the pakomatoses, especially tuberous sclerosis and the neurofibromatosis.The domain has considerably grown to include many other conditions in which variable amounts of cutaneous and neurological abnormalities tend to occur in persons with one same condition but not necessarily in the same person and most often with relatively independent involvement of various systems or organs.As a result,the clinical presentation of these conditions is extremely variable.Even major features may be missing in many accepted cases. In addition, extra-neurological and extra-cutaneous anomalies have been increasingly recognized and in some cases can represent the dominant clinical abnormalities. The causes and mechanisms are clearly multiple. Such heterogeneity further complicates the issues of classification and diagnosis. In- deed,if criteria for several specific entities have been established,no definite criteria have been adopted for the group as a whole,so the limits of the group of neurocutaneous syndromes can vary to some extent with the authors. The editors of this book have opted for a broad definition of the neurocutaneous disorders,encompassing diseases in which the clinical association of the cutaneous and the neurological manifestations is not fortuitous,regardless of the VIII Foreword mode of transmission,genetic or otherwise,of the mechanisms of disease,of the relative involvement of tissues or sys- tems and of the possible involvement of tissues other than skin or the nervous system,provided that the cutaneous and neurological features are present. This definition is not stringent and,in some cases,the decision as to whether minor dermatological of neurological features are sufficient to satisfy the requirement for dual tissue or organ involvement association may be somewhat arbi- trary. However, it is eminently practical from the point of view of diagnosis as no clear borderline exists between the various causes and categories of neurocutaneous disorders and indeed the conditions included in the group have varied widely with authors.It does not attempt to give any cue about aetiology and classification and is admittedly imperfect and temporary. However,such a simple approach permits to give a comprehensive description of all major neurocutaneous diseases on one simple clinical basis without having to justify their inclusion on the basis of dubious and not universally accepted criteria even though some conditions included may be regarded by some as disputable. The comprehensive text is written by distinguished clinicians and investigators who have contributed significantly to their study,several of them having indeed given the first or early descriptions of the disease described,covers in great detail the clinical presentations and brings about complementary up to date biological data which will be of help in se- lecting the best investigations for confirmation of the diagnosis. Over seventy erudite chapters together with profuse and excellent illustrations and explanatory schemes and diagrams will guide the reader in the interpretation of the highly polymorphous clinical features and the significance of the necessary diagnostic investigations for these conditions many of which are rare or uncommon.The rarity and complexity of the neurocutaneous diseases point to the difficulties to master the topic in full,none the less,and this is a dilemma familiar to physicians,whether common or rare,these diseases exist,therefore the persons affected deserve to receive correct diagnosis and management. Contrary to an unfortunately too common opinion,making a correct diagnosis is by no means an ‘insect collection’ exercise but is indeed of vital importance.For example,recognizing the minimal signs of neurofibromatosis I will radi- cally alter the therapeutic approach to a brainstem tumour that may not necessitate irradiation when part of this disor- der as opposed to isolated tumours,thus avoiding the tragic irradiation brain damage that was all too often observed in the past.Likewise,the diagnosis of many genetic conditions often rests critically on cutaneous,morphological or others non-obvious clinical or imaging details,essential to avoid incorrect genetic counselling which currently may have practi- cal consequences including legal ones. Given the complexity and the rarity of some of the neurocutaneous disorders,the necessity of imaging and connec- tions with specialized laboratory facilities and the multiple skills necessary for their management, no single physician can cover both the diagnosis and management requirements of all patients.As a result,many centres are now offering a team approach to difficult cases,with multidisciplinary units or specialized clinics for the neurocutaneous diseases which can help doctors in their task to alleviate the burden that these conditions represent for the patients and society at large. This work will go a long way to help clinicians face the complex challenges posed by the neurocutaneous disorders. It responds to the need for an up to date text about a group of conditions still largely unexplained and imperfectly diag- nosed.I firmly believe it will become the standard text in the field for many years.It will obviously be a ‘must’for neu- rologists and dermatologists especially those working with children, given the early age of clinical manifestations in most cases.Moreover,because the manifestations of the diseases studied can affect so many different tissues or organs, few clinicians will not need to use it for some cases and will like to find it at least in the hospital library as an essential reference work. This book will also be helpful for the more biologically oriented physicians and biologists who want to keep abreast of many general biological problems such as carcinogenesis and molecular genetics and hopefully improve the condition of persons affected by the neurocutaneous diseases. Jean Aicardi MD,FRCP,Hon FRCPCH Preface PREFACE This book sees the light of day after more than 5-year “gestation”.The idea behind it originated in the early 2000’and was originally inspired by the superb manual (published in 1987) by the late professor Manuel Rodriguez Gomez (Neu- rocutaneous Disorders.A Practical Approach.Boston:Butterworths).The manual was a practical and comprehensive guide to compile the diagnosis and management of nearly all the common and rare neurocutaneous disorders recognised at that time. It was an exhaustive and authoritative source of clinical information coupled with the pathological and pathogenetic knowledge of the time,enriched by historical pearls on the “men behind the syndromes”. Since the publication of that edition,there have been significant advances in many aspects of this field,especially in molecular genetics and cellular biology.As a consequence of that the general panorama of the neurocutaneous disorders has changed.New entities have been delineated expanding the nosology of the whole group.The old concepts on the natural history and treatment of the various syndromes have been largely modified by the most recent large,population- based,clinical and genotype studies.In addition,it has become clearer that the most appropriate approach for the man- agement of these disorders is multidisciplinary.At the same time,further important works on this and related topic(s) have been published delineating and establishing the present accepted definition(s) of the whole group of these disorders. As all of the present editors have been running special clinics devoted to the diagnosis and management of children and adults with neurocutaneous disorders and have research interests in this field,we set out to create a new text,which could reflect all these recent acquisitions coupling the practical clinical and bedside diagnostic approaches with the cur- rent management issues and the modern basic science.To this purpose, we congregated an internationally renowned group of contributors, many of them the very same experts who first explored a particular disorder or established its present accepted definition. Different from what was done in prior publications,in the present text we have included disorders,which had been only seldom reported or reported under such a variety of names that it was not clear they were distinct entities.By doing that we have opted in the end for a broad definition of the neurocutaneous disorders.This definition is not stringent and, in some cases, the decision as to whether minor skin or nervous system features were sufficient to satisfy the re- quirement for dual tissue or organ involvement association was on the basis of our personal clinical and research experi- ence.In some cases,the inclusion of a certain condition among the spectrum of neurocutaneous disorders was dictated, besides its clinical phenotype,by a common pathogenic mechanism or a shared metabolic/cellular pathway.In a rapidly changing panorama of proteins, effectors, metabolites and receptors acting in common “cascades” (see for example Fig.16,Chapter 5;Fig.9,Chapter 19;or Fig.8,Chapter 66) we opted for unifying rather than splitting groups of dis- orders.For these and other reasons (e.g.,historical) we have also maintained in this book the handling of some condi- tions even when an overt skin (e.g.,von Hippel-Lindau disease) or a frequent nervous system involvement (e.g.,ILVEN syndrome) was lacking. In other cases the frequent similarities and/or overlaps between some disorders (e.g., Sturge- Weber vs Klippel-Trenaunay vs Parkes Weber syndromes;or CHILD syndrome vs CDP Conradi-Hunermann-Happle type/CDPX2 syndrome) prompted us to treat the whole spectrum of disorders.To this purpose we also chose to subtitle the book “Phakomatoses and Hamartoneoplastic syndromes”[borrowing the latter term from the classical (4th edition;pub- lished in 2001) of the text by Robert J. Gorlin, Michael M. Cohen Jr and Raoul C.M. Hennekam (Syndromes of the Head and Neck.Oxford:Oxford University Press)] – i.e.,to emphasise that one of the aims of the present book was to encompass the whole spectrum of the classic neurocutaneous disorders and the less known conditions with “phakomas” and “hamartomas”. The book is deliberately in the format of a textbook rather than a manual and is conceived to address neurocuta- neous disorders in a different way from other existing publications in the field.Its main philosophy consists in the dis- cussion and wide illustration of neurocutaneous disorders,as it is much easier to recognise a disorder by seeing images rather than by only reading about clinical phenotypes.In line with such philosophy we also included many sections not only to detail historical and biographical aspects for the readers with a “historical turn of mind”but also to credit all the “women and men behind the eponyms”who attained their place in history not by accident,but by virtue of great gifts and consistent hard work of the highest quality in many fields besides medical field. X Preface The 72 chapters were authored and co-authored by leading,world-renowned authorities in the various fields many times co-authored by one or more of us.We also undertook an enormous editorial revision of all contributions to give the book a homogeneous structure.This entailed editing the text and sometimes adding our own case material where we considered it useful to enrich or complete the various presentations.We would like to thank all contributors for their pa- tience in accepting these frequent “intrusions”in their work.We also drew most of the line drawings ourselves,and in- cluded pathologic illustrations and anatomic preparations.Because the work on this book spanned several years,we also undertook a review,sometimes painful but hopefully thorough,of the more recent literature throughout the text. Last but not least,we wish to thank all the people at Springer in Vienna,Austria,and especially our first contact person Mr Raimund Petri-Wieder and the current medical editor Mrs.Mag.Franziska Brugger;the production editors Mag.Judith Martiska and Ing.Mag.(FH) Karim Ernst Karman;the selling editor Mrs.Petra Kern;and the typesetter Thomson Digital,A Division of Thomson Press (India) Ltd.,for the enduring kindness,patience,and trust that they bestowed in us, graciously accepting our too often controversial requests, believing that we would eventually succeed, and especially in pursuing a common goal.Their efforts coupled with the Springer’s superb quality of printing and lay- ing out made our initial aims concrete facts. Catania,Madrid and Rome,July 2008 Martino Ruggieri,MD,PhD Ignacio Pascual-Castroviejo,MD,PhD Concezio Di Rocco,MD Contents 1. Embryology of neurocutaneous syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 (Laura Flores-Sarnat and Harvey B.Sarnat) 2. Vascular birthmarks of infancy:PHACE(S)association (Pascual-Castroviejo type II syndrome) and Cobb syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 (Ignacio Pascual-Castroviejo) 3. Neurofibromatosis type 1 & related disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 51 (Martino Ruggieri,Meena Upadhyaya,Concezio Di Rocco,Annalia Gabriele, and Ignacio Pascual-Castroviejo) 4. Neurofibromatosis type 2 and related disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 153 (Scott Randall Plotkin) 5. The tuberous sclerosis complex . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181 (Sergiusz Józ´wiak,Nicola Migone,and Martino Ruggieri) 6. von Hippel-Lindau disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 229 (S.Taylor Jarrell,Edward H.Oldfield,and Russell R.Lonser) 7. Klippel–Tranaunay,Parkes Weber and Sturge–Weber syndromes (including Kasabach–Merrit phenomena) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 249 (Martino Ruggieri,Orhan Konez,and Ignacio Pascual-Castroviejo) 8. Klippel–Trenaunay syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 257 (Martino Ruggieri,Concezio Di Rocco,and Orhan Konez) 9. Parkes Weber syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 277 (Orhan Konez,Martino Ruggieri,and Concezio Di Rocco) 10. Sturge-Weber syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 287 (Ignacio Pascual-Castroviejo,Orhan Konez,Concezio Di Rocco,and Martino Ruggieri) 11. Osler-Weber-Rendu syndrome (Hereditary hemorrhagic telangiectasia) . . . . . . . . . . . . . . . . 311 (Haneen Sadick,Maliha Sadick,and Karl Hörmann) 12. Macrocephaly-cutis marmorata telangiectatica congenita (macrocephaly-capillary malformation) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 323 (Pablo Lapunzina and Jill Clayton-Smith) 13. Blue Rubber Bleb nevus syndrome (BRBNS) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 333 (María del Carmen Boente and María Rosa Cordisco) 14. Wyburn-Mason syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 345 (Martino Ruggieri,Orhan Konez,and Concezio Di Rocco) 15. Maffucci syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 353 (Leida B.Rozeman,Yvonne M.Schrage,Judith V.M.G.Bovée,and Pancras C.W.Hogendoorn) 16. Hypomelanosis of Ito and related disorders (Pigmentary mosaicism) . . . . . . . . . . . . . . . . . . . 363 (Ignacio Pascual-Castroviejo and Martino Ruggieri) 17. Phylloid hypomelanosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 386 (Carmelo Schepis) 18. Incontinentia pigmenti . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 391 (Ignacio Pascual-Castroviejo and Martino Ruggieri)
The list of books you might like
