Download or read book Genetic Skin Disorders written by Virginia P. Sybert and published by Oxford University Press. This book was released on 2017 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed by the author's extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room. FEATURES · Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike · More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities · Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions
Download or read book Handbook of Genetic Skin Disorders written by Fred M. Novice and published by Saunders. This book was released on 1994 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text provides a clinical overview of the diagnosis of hereditary diseases of the skin, hair, and mucous membranes. Key features and references for a wide variety of hereditary skin disorders are presented in a convenient format. Each disease is discussed according to its symptoms; clinical findings found in the skin, mucous membranes, hair, nails or teeth; non-skin findings; epidemiology; pathophysiology; comparison/contrast to related diseases; treatment and prognosis, mnemonics to assist in memorization of important facts; and references.
Download or read book Genodermatoses written by Joel L. Spitz and published by Lippincott Williams & Wilkins. This book was released on 2005 with total page 468 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Aimed at dermatologists, pediatricians and family physicians, this resource can be used for both board preparation and clinical practice. Each syndrome is presented in easy-to-read, two-page spreads that include full body diagrams and clinical photographs. The material is summarized in bulleted text that lists the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, lab findings, management and prognosis. Clinical pearls are interspersed through the text. This second edition updates previous chapters and includes new syndromes, such as PHACE, AEC, EEC, Griscelli and Birt-Hogg-Dube. Annotation : 2004 Book News, Inc., Portland, OR (booknews.com)"--[source inconnue].
Download or read book Genetic Diseases of the Skin written by V. M. Der Kaloustian and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 563 pages. Available in PDF, EPUB and Kindle. Book excerpt: The two organs of the body most accessible to examination are the eye and the skin and its appendages. That is why, it is said, ophthalmological genetics is in such flourishing good health. Dermatological genetics does not seem to have benefited so much from the skin being on the outside, and there are but few dermatological counterparts to the volumes of Sorsby, Waardenburg, Franceschetti and Franr,;ois, among others. But thanks to the growing interest in medical genetics, and the modern sophisticated tech niques of molecular, biochemical, and ultrastructural examination, der matology is beginning to catch up, as the appearance of this volume testifies. Because of the growing body of knowledge and the heightened awareness of genetics by both patients and physicians, dermatologists not only will be asked more often about the inheritance of skin conditions they diagnose but increasingly will have the opportunity to diagnose a variety of inborn errors and syndromes by their dermatologic manifestations. On the other hand, syndromologists, clinical geneticists, and physicians are continually seeing patients with diagnostic clues in the skin that they must be able to appreciate. For both groups this book will be a new and valuable source of help. Spring 1979 F. CLARKE FRASER, Ph.D., M.D.
Download or read book Genetic Skin Disorders written by Virginia Sybert and published by Oxford University Press. This book was released on 2010-06-09 with total page 785 pages. Available in PDF, EPUB and Kindle. Book excerpt: This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest. The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.
Download or read book The Ichthyoses written by Heiko Traupe and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: It is a great pleasure for me to see this work in print. As outlined by Dr. Traupe, at least 20 different types of ichthyosis have been identified to date. This book will effectively help to establish a correct diagnosis, as a basis for genetic counseling. Dr. Traupe proposes a new classification of the ichthyoses, based on reason able clinical criteria. He lets the reader share in his enormous knowledge and safely guides him through the difficult field of nomenclature. He describes the particular nature of these scaling disorders in a manner as simple as possible. During the last few years, research on ichthyosis has become a fascinating scientific challenge due to the introduction of novel investigative approaches. The main advantage of this book lies in the fact that the author successfully combines recent achievements made in lipid analysis, enzymology, electron microscopy, and molecular genetics. Heiko Traupe began his career in dermatology 11 years ago, as a resident in the Department of Dermatology in Munster. As we were both interested in the genetic aspects of skin diseases, this was the starting point of a most fruitful collaboration, which is still continuing. During our common work in Munster, Dr. Traupe was able, thanks to his unceasing clinical curiosity, to describe many novel aspects within the field of ichthyosis, and I took pride in coauthoring papers on new items such as cryptorchidism as a fea ture associated with X-linked recessive ichthyosis, autosomal dominant lamellar ichthyosis, and alopecia ichthyotica.
Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Download or read book Genetic Disorders of the Skin written by Joseph C. Alper and published by Mosby Elsevier Health Science. This book was released on 1991 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Textbook of Primary Care Dermatology written by David Buckley and published by Springer Nature. This book was released on 2021-09-07 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook provides a comprehensive, practical guide to the identification of a range of common dermatological conditions encountered within primary care. It features a problem-based approach to the topics and conditions covered. Clinical photographs, diagrams and pertinent tables along with clear learning objectives, clinical pearls and pitfalls in each chapter facilitate understanding in the diagnosis and management of a range of common dermatological conditions. Textbook of Primary Care Dermatology empowers the reader to develop their understanding of how to deal with a range of common skin, hair and nail problems. It is ideal for training and practising primary care physicians seeking a quick reference guide to use in their clinical practice and the trainee dermatologist seeking a primer on the topic. It is also suitable for other members of the primary care team including nurses, pharmacists, physician associates and clinical assistants, and it is very useful for hospital-based doctors and nurses in other disciplines who want a quick, practical reference to common dermatological problems.
Download or read book Human Genes and Disease written by F. Blasi and published by . This book was released on 1986-10-03 with total page 696 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics for Dermatologists written by Sherri J. Bale and published by Remedica Pub Limited. This book was released on 2000-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the past decade enormous progress has been made in our understanding of the molecular genetic basis of many dermatological disorders, and such information is already beginning to impact on clinical practice. This book provides dermatologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic dermatological disorders. Each disease is reviewed in an identical manner: clinical features, etc. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. Aimed primarily at dermatologists, this book also provides much of interest to clinical geneticists and genetic counsellors. With its quick reference format, Genetics for Dermatologists will be readily appreciated by busy practitioners.
Download or read book Environmental Factors in Skin Diseases written by Ethel Tur and published by Karger Medical and Scientific Publishers. This book was released on 2007-01-01 with total page 205 pages. Available in PDF, EPUB and Kindle. Book excerpt: Due to the increasing exposure of the skin to damaging environmental influences such as ultraviolet radiation, climatic determinants, chemicals or infections, research in this field is rapidly progressing. The interaction between the skin and the environment presents a fascinating and challenging research subject. For instance, skin aging and skin carcinogenesis are caused by both genetic and environmental factors. And also in diseases like psoriasis, atopic dermatitis and collagen diseases, genetic, immunologic and environmental factors interact. In recent years, new technologies to investigate skin response have allowed researchers to explore the interplay of environmental and genomic elements in skin cell biology, decipher the biochemical steps undertaken in the process, and study the genetics underlying variations in skin response to the environment. In this volume the state-of-the-art findings, ranging from molecular biology to epidemiology, are discussed thoroughly. The publication thus provides new insights for dermatologists, allergologists and immunologists who seek a better understanding of disease processes and new therapeutic strategies.
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Download or read book The Encyclopedia of Genetic Disorders and Birth Defects written by James Wynbrandt and published by Infobase Publishing. This book was released on 2010-05-12 with total page 705 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.
Download or read book Genodermatoses written by Joel L. Spitz and published by Lippincott Williams & Wilkins. This book was released on 2015-04-24 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt: Featuring over 300 full-color illustrations and a unique format designed to aid in retaining information, this user-friendly guide to genetic skin disorders is ideal for board preparation and clinical reference for dermatologists, pediatricians, or any practitioner interested in this area. Each syndrome is presented on a two-page spread. Full body diagrams and clinical photographs appear on one page. Bulleted text on the facing page summarizes patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis. Boxed clinical pearls from invited experts are also included. All information has been updated for this edition, including new syndromes and illustrations.
Download or read book Severe Skin Diseases in Children written by Wynnis L. Tom and published by Springer Science & Business Media. This book was released on 2013-12-02 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: A textbook to guide practitioners on treating severe skin diseases in children, when they have failed topical therapy-- will discuss the appropriate candidates, considerations and approaches in drug therapy, possible problems that may arise. Photographs will help to illustrate the cases/conditions.
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.
