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 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 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 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 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 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 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 Inherited Skin Disorders 2Ed written by John Harper and published by CRC Press. This book was released on 1999-07-12 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: The genodermatoses are a group of inherited skin disorders forming a small but important proportion of the cases seen by dermatologists and paediatricians. Recent genetic developments have led to a better understanding of the underlying aetiology of the genodermatoses; understanding now being applied to improve management. John Harper has brought together an eminent and international team of contributors to produce a comprehensive handbook for those involved in the care of patients with genodermatoses. Following an introduction covering clinical perspectives, animals models and prenatal dermatology, the second edition of the book approaches specific disease groups. Each of the sixteen chapters begins with a broad classification and a comprehensive and up-to-date review of the major diseases encompassing definition, genetics, clinical, features, pathology, course, prognosis and management, emphasizing the practical approach throughout. Section three covers counseling, prenatal and pre-implantation diagnosis. There are many tables and the chapters are concisely referenced; excellent line drawings are contributed by the illustration department of the Institute of Child Health and colour illustrations throughout support the text. Primarily intended for dermatologists as well as paediatricians, geneticists, physicians in training, general practitioners and those involved with the treatment of such patients.
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 Atlas of Genodermatoses written by Gianluca Tadini and published by CRC Press. This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosing a genetic skin disease can sometimes be a difficult task for a dermatologist. This is especially true for genodermatoses─generally considered rare diseases seldom seen by practicing clinicians. As a result, professionals often have little experience with their diagnosis. The Atlas of Genodermatoses presents a unique collection of such cases gathered patiently over the course of the years by the authors. It provides an unsurpassed overview of the major genodermatoses encountered in practice, even if only on rare occasions. This book discusses almost 200 inherited diseases of the skin, hair, and nails. The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. In addition to being a clinical primer, this atlas is also a work of scientific research. The new edition rewrites the classification of some diseases, adds some newly described conditions, and updates established information with the latest molecular genetic studies and references. Specialists in both dermatology and pediatrics should find the atlas an invaluable frontline resource in the clinic.
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 NF B Related Genetic Diseases written by Gilles Courtois and published by Springer. This book was released on 2015-12-29 with total page 78 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the diverse clinical, cellular and molecular manifestations of NF-KB-related genetic diseases. It shows that studying patient-related pathologies affecting the components of the NF-KB signaling pathway offers the opportunity to understand the various functions of NF-KB in humans, complementing studies performed with mouse models. In addition, people treating those patients acquire a deeper understanding of the molecular basis of the pathophysiological processes.
Download or read book Disease Control Priorities in Developing Countries written by Dean T. Jamison and published by World Bank Publications. This book was released on 2006-04-02 with total page 1449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on careful analysis of burden of disease and the costs ofinterventions, this second edition of 'Disease Control Priorities in Developing Countries, 2nd edition' highlights achievable priorities; measures progresstoward providing efficient, equitable care; promotes cost-effectiveinterventions to targeted populations; and encourages integrated effortsto optimize health. Nearly 500 experts - scientists, epidemiologists, health economists,academicians, and public health practitioners - from around the worldcontributed to the data sources and methodologies, and identifiedchallenges and priorities, resulting in this integrated, comprehensivereference volume on the state of health in developing countries.
Download or read book Atlas of Dermatology Dermatopathology and Venereology written by Bruce Smoller and published by Springer. This book was released on 2021-10-07 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bringing together thousands of the best dermatologic clinical and pathological photographs and figures from researchers and scientists around the world, this volume focuses on the most prevalent dermatologic disorders as they relate to cutaneous infectious and neoplastic conditions and procedural dermatology. It includes atypical presentations of various disorders, giving insight into differential diagnoses, helping to familiarize the reader with some of the rarest dermatologic disorders. Atlas of Dermatology, Dermatopathology and Venereology Volume 3 is written for dermatologists, dermatopathologists, and residents and summarizes data regarding any dermatologic disorder and syndrome. Each entry includes an introduction, clinical and pathological manifestations, diagnosis, differential diagnosis, and treatment and prognosis. div>/div/div/div
Download or read book Neutrophil Mediated Skin Diseases Immunology and Genetics written by Angelo Valerio Marzano and published by Frontiers Media SA. This book was released on 2019-12-30 with total page 121 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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.
Download or read book Dermatological Atlas of Indigenous People written by Marcos Cesar Florian and published by Springer. This book was released on 2017-09-07 with total page 93 pages. Available in PDF, EPUB and Kindle. Book excerpt: Skin diseases are highly prevalent among indigenous people, leading to low mortality but greatly impacting their quality of life. Such diseases can be observed in indigenous people; both those living in isolated communities and those who have since been urbanized to some degree share a common characteristic of presenting different clinical patterns than non-indigenous individuals. These specificities necessitate a special approach when diagnosing dermatologic diseases in indigenous people. However, these considerations are rarely discussed in standard dermatology books. This Atlas addresses that gap by providing specific materials for professionals involved in the health of indigenous people, especially with those who live either alone or in remote areas. It offers a comprehensive overview of the most common skin diseases in specific tribes, providing a full clinical guide on the dermatologic signs and symptoms in these individuals. Additionally, the book complements the clinical standpoint with an anthropologic perspective, examining the impact of dermatologic diseases in indigenous people and the different meaning of these diseases in their lives. Most of the material presented in this Atlas was collected in the Xingu Program, a project created in 1965 by the Federal University of São Paulo, Brazil, and devoted to providing medical care to indigenous people from the Upper Xingu region, in the heart of the Amazon rainforest. Thus, the content is primarily applicable to South American indigenous people. However, the common characteristics of the isolation and non-urbanization of these communities, as well as the anthropologic perspective adopted here, allow the content to be extrapolated to other indigenous peoples worldwide. This Atlas will be a novel and valuable resource for health professionals who work with indigenous peoples, especially in geographic areas where dermatologists are not always readily available.
