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Mosaicism in Human Skin: Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia PDF

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Mosaicism in Human Skin Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia Rudolf Happle Antonio Torrelo Second Edition 123 Mosaicism in Human Skin Colored table by J. Wissmaack, representing “Marie Horstmann, Nevus verrucosus and neuropathic papilloma accord- ing to Esmarch” originally published in the volume Die Elephantiastischen Formen by F. Esmach and D. Kulenkampff (auth.), publisher J.F. Richter Verlag, Hamburg, 1885. Figure under Public Domain Rudolf Happle • Antonio Torrelo Mosaicism in Human Skin Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia Second Edition Rudolf Happle Antonio Torrelo Department of Dermatology Department of Dermatology Freiburg University Medical Center Hospital Infantil Universitario Niño Jesús Freiburg, Germany Madrid, Spain Originally published under: Happle, R. (auth) Mosaicism in Human Skin, Springer- Verlag Berlin Heidelberg ISBN 978-3-030-89936-3 ISBN 978-3-030-89937-0 (eBook) https://doi.org/10.1007/978-3-030-89937-0 © Springer Nature Switzerland AG 2014, 2023 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland Preface This second edition contains many significant changes. First of all, the work owes its appearance to the steadfast cooperation of two dermatologists from Freiburg and Madrid, respectively. During the past years, the molecular revolution in cutaneous biology has yielded many new discoveries. Therefore, this volume describes several new categories such as the dichotomy of monoallelic versus biallelic mosaicism; disseminated mosaicism of biallelic autosomal dominant disorders; isolated segmental biallelic monoclonal mosaicism; double postzygotic mutations in cis, involving the gene TEK; and autosomal recessive mosaicism. In the first edition of this book, one of us wrote: “In the years to come, further molecular research will show which of the hypotheses presented here can be corroborated and which of them may turn out to be wrong.” Fortunately, the number of substantial errors was limited. For example, a conspicuous case of the so-called X-linked albinism-deafness syndrome was detected to represent in fact Waardenburg syndrome type 2, thus being an autosomal dominant trait that has now been moved to the section on “epigenetic mosa- icism of autosomal genes.” The first edition contained a short “Note on neoplastic skin lesions.” This subject was on the borderline to the vast realm of oncology because all malignant tumors represent mosaics. We had to decide either to expand or to omit this voluminous subject, and we decided to cut this chapter away. Many oncological aspects will now be presented in other Chaps. 3 and 10 or elsewhere. During the preparation of this work, we had lots of fun by learning a great deal from each other. Of course, we were not always of the same opinion, which resulted in lively discussions that did not interfere, however, with our friendship. Presumably, we are so well disposed to each other because we are born on exactly the same day, albeit with a distance of 25 years. We want to thank Professor Leena Bruckner-Tuderman and her successor, Professor Kilian Eyerich who kindly continued to offer to one of us a work- ing place at the Department of Dermatology in Freiburg. Ms. Juliette R. Kleemann from Springer Science+Business Media successfully managed that we could get, and keep, the ultimate deadline to deliver our text in these cumbersome Corona times, and Mr. Felix Lörch from Springer Heidelberg performed the steps of the production in an exemplary manner. Last but not v vi Preface least, we should like to thank our wives, Karin in Freiburg and Lourdes in Madrid, who gave us the time and moral support to fulfill the task of writing this new edition. Rudolf Happle Antonio Torrelo Freiburg, Germany Madrid, Spain Acknowledgments The following colleagues or other persons kindly provided photographs or gave advice how to find cases and references: David Atherton, London, UK Jacques Ayer, Geneva, Switzerland Eulalia Baselga, Barcelona, Spain Herrmann Blaschko, Oxford, UK Mario Bittar, Mendoza, Argentina Ernesto Bonifazi, Bari, Italy Frédéric Cambazard, St. Etienne, France Marco Castori, Rome, Italy WenChieh Chen, Munich, Germany Hansjörg Cremer, Heilbronn, Germany Franco Crovato, Genoa, Italy Hugo Degreef, Leuven, Belgium Elzo Folkers, Zaandam, The Netherlands Regina Fölster-Holst, Kiel, Germany Hansjörg Frei, Zurich, Switzerland Alejandro García Vargas, Guadalajara, Mexico Antonia González-Enseñat, Barcelona, Spain Robert J. Gorlin, Minneapolis, Minnesota, USA Henning Hamm, Würzburg, Germany Susanne Happle, Shanghai, China Adelaide Hebert, Houston, Texas Helena de las Heras, Madrid, Spain Susan M. Huson, Manchester, UK Peter H. Itin, Basel, Switzerland Marcel Jonkman, Groningen, The Netherlands Hülya Kayserili, Istanbul, Turkey Claudia Kluge, Freiburg, Germany Arne König, Marburg, Germany Thomas Krieg, Cologne, Germany Gerhard Kurlemann, Münster, Germany Michael Landthaler, Regensburg, Germany Ulrich Langenbeck, Frankfurt, Germany Eric Legius, Leuven, Belgium Derek Lim, Birmingham, UK Gérard Lorette, Tours, France vii viii Acknowledgments Eamonn Maher, Birmingham, UK Wolfgang Marsch, Halle (Saale), Germany Silvestre Martínez-García, Málaga, Spain Beatrice Mintz, Philadelphia, Pennsylvania, USA Georges Moulin, Lyon, France Marcel Müller, Freiburg, Germany Kirsti-Maria Niemi, Helsinki, Finland Shiro Niiyama, Sagamihara, Japan Shigeo Nishiyama, Kamakura, Japan Arnold Oranje, Rotterdam, The Netherlands Jean-Paul Ortonne, Nice, France Francis Palisson, Santiago, Chile Mauro Paradisi, Rome, Italy Anna M. Pasmooij, Groningen, The Netherlands Gerd Plewig, Munich, Germany Howard Pride, Danville, Pennsylvania, USA Hans-Dieter Rott, Erlangen, Germany Ramón Ruiz-Maldonado, Mexico City, Mexico Thomas Ruzicka, Munich, Germany Aïcha Salhi, Algiers, Algeria Walter Salzburger, Basel, Switzerland Silvina Sartori, Santa Fe, Argentina Maxwell B. Sauder, Ottawa, Canada Cornelia S. Seitz, Göttingen, Germany Theo Starink, Amsterdam, The Netherlands Beat Steinmann, Zurich, Switzerland Alexander Stella, Vienna, Austria Alain Taïeb, Bordeaux, France Iliana Tantcheva-Poor, Cologne, Germany Mustafa Tekin, Ankara, Turkey Sigrid Tinschert, Berlin, Germany Uwe Töllner, Fulda, Germany Jaime Toribio, Santiago de Compostela, Spain Adoni Urtizberea, Paris, France Fereydoun Vakilzadeh, Hildesheim, Germany Shyam B. Verma, Vadodara, India Wolf I. Worret, Munich, Germany Sabine Wever, Basel, Switzerland Ching-Ying Wu, Kaohsiung, Taiwan Hitoshi Yaguchi, Tokyo, Japan Shehu M. Yusuf, Kano, Nigeria Mónica Zambrano, Quito, Ecuador Contents 1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 2 Mosaicism as a Biological Concept . . . . . . . . . . . . . . . . . . . . . . . . 3 2.1 H istorical Beginnings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 2.2 M osaicism in Plants . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 2.3 M osaicism in Animals . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 2.4 M osaicism in Human Skin . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 2.5 M osaicism Versus Chimerism . . . . . . . . . . . . . . . . . . . . . . . . . 8 2.6 D oes the Coat of Zebras Reflect Mosaicism? . . . . . . . . . . . . . 8 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 3 The Major Categories of Mosaicism . . . . . . . . . . . . . . . . . . . . . . . 11 3.1 N onsegmental Versus Segmental Mosaicism of Autosomal Dominant Skin Disorders . . . . . . . . . . . . . . . . . 11 3.1.1 Nonsegmental Mosaicism . . . . . . . . . . . . . . . . . . . . . . 11 3.1.2 Segmental Mosaicism . . . . . . . . . . . . . . . . . . . . . . . . . 12 3.2 G enomic Versus Epigenetic Mosaicism . . . . . . . . . . . . . . . . . . 12 3.3 G enomic Mosaicism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 3.3.1 Genomic Mosaicism of Autosomes . . . . . . . . . . . . . . . 12 3.3.2 Autosomal Recessive Mosaicism . . . . . . . . . . . . . . . . . 22 3.3.3 Didymosis (Twin Spotting) . . . . . . . . . . . . . . . . . . . . . 23 3.3.4 Revertant Mosaicism . . . . . . . . . . . . . . . . . . . . . . . . . . 25 3.3.5 Genomic X-Chromosome Mosaicism in Male Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26 3.3.6 Superimposed Segmental Manifestation of Polygenic Skin Disorders . . . . . . . . . . . . . . . . . . . . 26 3.4 E pigenetic Mosaicism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 28 3.4.1 Epigenetic Mosaicism of Autosomal Genes . . . . . . . . 29 3.4.2 Epigenetic Mosaicism of X Chromosomes . . . . . . . . . 30 3.4.3 X-Linked Genes Escaping Inactivation . . . . . . . . . . . . 32 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 32 4 Relationship Between Hypomorphic Alleles and Mosaicism of X-Linked or Autosomal Mutations . . . . . . . . . . . . 43 4.1 H ypomorphic Alleles and X-Linked Dominant, Male-Lethal Cutaneous Syndromes . . . . . . . . . . . . . . . . . . . . . 43 4.2 H ypomorphic Alleles in Autosomal Dominant Skin Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47 ix

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