Mosaicism In Human Skin

Author : Rudolf Happle
Publisher : Springer Nature
ISBN 13 : 3030899373
Total Pages : 252 pages
Book Rating : 4.70/5 ( download)

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Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Nature. This book was released on 2022-11-24 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.

Author : Rudolf Happle
Publisher : Springer
ISBN 13 : 9783642387661
Total Pages : 229 pages
Book Rating : 4.67/5 ( download)

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Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer. This book was released on 2013-11-30 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mosaicism is a powerful biologic concept, originally developed from studying plants and animals. All cutaneous neoplasms, both benign and malignant, reflect mosaicism, which is the necessary basis to explain numerous human skin disorders. For example, various mosaic patterns visualize the embryonic development of human skin and X-linked skin disorders explain why women live longer than men, and so on. This book presents, for the first time, a comprehensive overview on the strikingly manifold patterns and peculiarities of mosaic skin disorders. This reader-friendly structured and straightforward publication will help the dermatologist to understand the underlying molecular mechanisms of skin disorders in order to further improve the treatment outcome.

Author : Peter H. Hoeger
Publisher : John Wiley & Sons
ISBN 13 : 1119142199
Total Pages : 0 pages
Book Rating : 4.95/5 ( download)

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Download or read book Harper's Textbook of Pediatric Dermatology, 2 Volume Set written by Peter H. Hoeger and published by John Wiley & Sons. This book was released on 2019-12-16 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A consummate classic with a fresh approach to pediatric dermatology Children ́s skin is different. Maturation affects the epidermal barrier, the cutaneous microbiome, adnexal structures, vasculature, and transcutaneous absorption of drugs. The immature skin is more susceptible to pathogens and environmental disruption. Many genetic disorders are either present at birth or manifest early in childhood. Skin diseases thus present differently in children than in adults. Pediatric dermatology has seen significant advances over the last decade, particularly in the field of molecular genetics research, which has furthered our understanding of the pathogenesis of many skin diseases and the development of new approaches to treatment. This fourth edition of the Harper classic provides state-of-the-art information on all aspects of skin disease in children. It covers the diagnosis and treatment of all conditions - both common and rare - with a consistently evidence-based approach. Existing content has been refreshed and fully updated to reflect emerging thinking and to incorporate the latest in research and clinical data - especially at the genetic level. This new fourth edition includes: Greater focus on the genetics behind skin disease, including new genes/genodermatoses, progress in genetic analysis, and stem cell transplants Increased coverage of lasers and other technologies used to treat skin disease More summary tables, learning points, tables of differential diagnosis, and clinical algorithms for diagnosis and management Additional online features, including patient information links and multiple choice questions Harper's Textbook of Pediatric Dermatology delivers crucial clinical insights and up-to-date research information that spans the breadth of the field. As the most comprehensive reference book on this subject available, this revised fourth edition will support and guide the daily practice of both dermatologists and pediatricians across the world.

Author : Walter Burgdorf
Publisher : Springer
ISBN 13 : 9783540293125
Total Pages : 0 pages
Book Rating : 4.24/5 ( download)

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Download or read book Braun-Falco ́s Dermatology written by Walter Burgdorf and published by Springer. This book was released on 2008-11-28 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Also the 3rd edition of "Dermatology" covers all the classical and related fields of dermatology, providing a wealth of information on diagnostic methods, clinical features, pathophysiology, and differential diagnosis. About 950 excellent photos and diagrams help the reader become acquainted with the immense variety of dermatological diseases. The contents of all chapters have been updated. New chapters have been included covering numerous subjects, e.g. dermatopathology, sonography, disorders of chromosomal instability and defective DNA repair, aging skin, sport dermatology, aesthetic therapy. The book is a must for every doctor confronted with dermatological problems.

Author : Susan Lewis-Jones
Publisher : Oxford University Press
ISBN 13 : 0192581414
Total Pages : 569 pages
Book Rating : 4.19/5 ( download)

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Download or read book Paediatric Dermatology written by Susan Lewis-Jones and published by Oxford University Press. This book was released on 2020-03-07 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Paediatric Dermatology is an indispensable and highly-accessible practical guide for all healthcare professionals faced with the assessment, diagnosis, and treatment of children with skin diseases. The second edition has been fully revised and updated to take into account new advances in therapies including biologics and genetics, and emerging problems such as rashes associated with transplantation and immunosuppression. Divided into 39 comprehensive chapters written by experts in both dermatology and paediatrics, the book is organised according to presentation and body site rather than diagnosis, making it ideal for quick reference in the clinical setting, as well as general study. It contains over 325 full-colour, high-quality clinical photographs of skin conditions, as well as simple algorithms to aid diagnosis of common presentations such as itchy red rashes, blistering disorders, bruising, and nail disorders. Features of more rare dermatological conditions are listed under the relevant clinical signs for easy reference and to aid diagnosis. Advice is given on when to refer to a dermatologist, while short descriptions of approved treatment modalities are given where appropriate.

Author : Wen-Yuan Zhu
Publisher : Springer
ISBN 13 : 9811080372
Total Pages : 594 pages
Book Rating : 4.71/5 ( download)

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Download or read book Atlas of Skin Disorders written by Wen-Yuan Zhu and published by Springer. This book was released on 2018-07-31 with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book was written to assist the dermatologists and practitioners in the management of rare and challenging skin disorders. It is the most valuable collection of such skin disorders from more than 274 outstanding contributors over 4 decades in China. In this book, a comprehensive coverage of about 387 conditions are illustrated by 1215 superb images, and each is introduced with an initial summary of clinical characters. This atlas incorporates a wide range of skin disorders from the mildest and common conditions to the most severe conditions. The objective of this book is to provide readers with a clinical reference, which can be easily approachable and possesses the necessary expertise to sharpen a dermatologist’s diagnostic and clinical acumen.

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.78/5 ( download)

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Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.05/5 ( download)

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Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

Author : Ruggero Caputo
Publisher : CRC Press
ISBN 13 : 1841842516
Total Pages : 448 pages
Book Rating : 4.16/5 ( download)

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Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.

Author : Nanette B. Silverberg
Publisher : Springer
ISBN 13 : 1461466547
Total Pages : 473 pages
Book Rating : 4.43/5 ( download)

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Download or read book Pediatric Skin of Color written by Nanette B. Silverberg and published by Springer. This book was released on 2015-03-05 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​Pediatric Skin of Color is the first textbook devoted to the issues of pediatric skin of color. In 2052, more than fifty percent of the United States will be of color, and currently seventy percent of the world's population is termed of color. Therefore, this book fills the need for an instructional and educational referebce work regarding these populations. Pediatric Skin of Color​ discusses the biology and clinical data regarding normal skin, skin conditions exclusive to individuals of color, systemic diseases of individuals of color that have a strong component of skin involvement, and the appearance and demographics of common skin diseases, comparing Caucasian and all skin of color populations. Written for dermatologists and pediatric dermatologists, this text includes data on African American, Asian (Southeast and East), Hispanic/Latino, and Middle Eastern patients, as well as Indigenous populations (i.e. Native Americans, Aborigines).