Mosaicism in Human Skin
Title | Mosaicism in Human Skin PDF eBook |
Author | Rudolf Happle |
Publisher | Springer Nature |
Pages | 252 |
Release | 2022-11-24 |
Genre | Medical |
ISBN | 3030899373 |
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.
Mosaicism in Human Skin
Title | Mosaicism in Human Skin PDF eBook |
Author | Rudolf Happle |
Publisher | Springer |
Pages | 229 |
Release | 2013-11-30 |
Genre | Medical |
ISBN | 9783642387661 |
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.
Braun-Falco ́s Dermatology
Title | Braun-Falco ́s Dermatology PDF eBook |
Author | Walter H.C. Burgdorf |
Publisher | Springer |
Pages | 0 |
Release | 2009 |
Genre | Medical |
ISBN | 9783540293163 |
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.
Atlas of Genodermatoses
Title | Atlas of Genodermatoses PDF eBook |
Author | Ruggero Caputo |
Publisher | CRC Press |
Pages | 448 |
Release | 2005-12-12 |
Genre | Medical |
ISBN | 1841842516 |
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.
Neurocutaneous Disorders
Title | Neurocutaneous Disorders PDF eBook |
Author | Martino Ruggieri |
Publisher | Springer Science & Business Media |
Pages | 1052 |
Release | 2009-10-01 |
Genre | Medical |
ISBN | 3211695001 |
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Atlas of Skin Disorders
Title | Atlas of Skin Disorders PDF eBook |
Author | Wen-Yuan Zhu |
Publisher | Springer |
Pages | 597 |
Release | 2018-07-31 |
Genre | Medical |
ISBN | 9811080372 |
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.
Cassidy and Allanson's Management of Genetic Syndromes
Title | Cassidy and Allanson's Management of Genetic Syndromes PDF eBook |
Author | John C. Carey |
Publisher | John Wiley & Sons |
Pages | 1104 |
Release | 2021-01-27 |
Genre | Science |
ISBN | 1119432677 |
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.