Genetic Skin Disorders
Genetic Skin Disorders

Author: Virginia P. Sybert

Publisher: Oxford University Press

Published: 2017

Total Pages: 489

ISBN-13: 0190276479

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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

Genodermatoses
Genodermatoses

Author: Joel L. Spitz

Publisher: Lippincott Williams & Wilkins

Published: 2005

Total Pages: 468

ISBN-13: 9780781740883

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"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].

Genetic Diseases of the Skin
Genetic Diseases of the Skin

Author: V. M. Der Kaloustian

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 563

ISBN-13: 3642671527

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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.

Handbook of Genetic Skin Disorders
Handbook of Genetic Skin Disorders

Author: Fred M. Novice

Publisher: Saunders

Published: 1994

Total Pages: 734

ISBN-13:

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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.

Genetic Skin Disorders
Genetic Skin Disorders

Author: Virginia Sybert

Publisher: Oxford University Press

Published: 2010-06-09

Total Pages: 785

ISBN-13: 0199774404

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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.

Handbook of Clinical Adult Genetics and Genomics
Handbook of Clinical Adult Genetics and Genomics

Author: Shweta Dhar

Publisher: Academic Press

Published: 2020-04-10

Total Pages: 530

ISBN-13: 0128173459

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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

The Ichthyoses
The Ichthyoses

Author: Heiko Traupe

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 270

ISBN-13: 3642736505

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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.

Textbook of Primary Care Dermatology
Textbook of Primary Care Dermatology

Author: David Buckley

Publisher: Springer Nature

Published: 2021-09-07

Total Pages: 624

ISBN-13: 3030291014

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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.