Genetic Diseases Of The Skin

Author : Virginia P. Sybert
Publisher : Oxford University Press
Page : 489 pages
File Size : 44,9 Mb
Release : 2017
Category : Medical
ISBN : 9780190276478

Get Book

Genetic Skin Disorders by Virginia P. Sybert Pdf

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

Author : V. M. Der Kaloustian,A. K. Kurban
Publisher : Springer Science & Business Media
Page : 342 pages
File Size : 50,5 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642671524

Get Book

Genetic Diseases of the Skin by V. M. Der Kaloustian,A. K. Kurban Pdf

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.

Author : Fred M. Novice
Publisher : Saunders
Page : 734 pages
File Size : 52,6 Mb
Release : 1994
Category : Medical
ISBN : UOM:39015032933809

Get Book

Handbook of Genetic Skin Disorders by Fred M. Novice Pdf

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.

Author : Joel L. Spitz
Publisher : Lippincott Williams & Wilkins
Page : 468 pages
File Size : 40,9 Mb
Release : 2005
Category : Medical
ISBN : 0781740886

Get Book

Genodermatoses by Joel L. Spitz Pdf

"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].

Author : Virginia Sybert
Publisher : Oxford University Press
Page : 785 pages
File Size : 40,5 Mb
Release : 2010-06-09
Category : Medical
ISBN : 9780199774401

Get Book

Genetic Skin Disorders by Virginia Sybert Pdf

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.

Author : John Harper
Publisher : CRC Press
Page : 368 pages
File Size : 48,5 Mb
Release : 1999-07-12
Category : Medical
ISBN : 0750646284

Get Book

Inherited Skin Disorders, 2Ed by John Harper Pdf

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.

Author : Dean T. Jamison,Joel G. Breman,Anthony R. Measham,George Alleyne,Mariam Claeson,David B. Evans,Prabhat Jha,Anne Mills,Philip Musgrove
Publisher : World Bank Publications
Page : 1449 pages
File Size : 52,6 Mb
Release : 2006-04-02
Category : Medical
ISBN : 9780821361801

Get Book

Disease Control Priorities in Developing Countries by Dean T. Jamison,Joel G. Breman,Anthony R. Measham,George Alleyne,Mariam Claeson,David B. Evans,Prabhat Jha,Anne Mills,Philip Musgrove Pdf

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.

Author : Heiko Traupe
Publisher : Springer Science & Business Media
Page : 270 pages
File Size : 52,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642736506

Get Book

The Ichthyoses by Heiko Traupe Pdf

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.

Author : Joel L. Spitz
Publisher : Lippincott Williams & Wilkins
Page : 420 pages
File Size : 50,7 Mb
Release : 2015-04-24
Category : Electronic
ISBN : 1451166842

Get Book

Genodermatoses by Joel L. Spitz Pdf

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.

Author : Joseph C. Alper
Publisher : Mosby Elsevier Health Science
Page : 404 pages
File Size : 47,9 Mb
Release : 1991
Category : Medical
ISBN : UOM:39015018891955

Get Book

Genetic Disorders of the Skin by Joseph C. Alper Pdf

Author : F. Blasi
Publisher : Unknown
Page : 696 pages
File Size : 46,6 Mb
Release : 1986-10-03
Category : Medical
ISBN : STANFORD:36105032411253

Get Book

Human Genes and Disease by F. Blasi Pdf

Author : Gianluca Tadini,Michela Brena,Lidia Pezzani,Carlo Gelmetti
Publisher : CRC Press
Page : 0 pages
File Size : 51,9 Mb
Release : 2015
Category : Medical
ISBN : 1466598352

Get Book

Atlas of Genodermatoses by Gianluca Tadini,Michela Brena,Lidia Pezzani,Carlo Gelmetti Pdf

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.

Author : Gilles Courtois,Alessandra Pescatore,Jérémie Gautheron,Francesca Fusco,Matilde Valeria Ursini,Anna Senegas
Publisher : Springer
Page : 70 pages
File Size : 54,8 Mb
Release : 2015-12-29
Category : Science
ISBN : 9783319258508

Get Book

NF-κB-Related Genetic Diseases by Gilles Courtois,Alessandra Pescatore,Jérémie Gautheron,Francesca Fusco,Matilde Valeria Ursini,Anna Senegas Pdf

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.

Author : James Wynbrandt,Mark D. Ludman
Publisher : Infobase Publishing
Page : 705 pages
File Size : 52,8 Mb
Release : 2010-05-12
Category : Juvenile Nonfiction
ISBN : 9781438120959

Get Book

The Encyclopedia of Genetic Disorders and Birth Defects by James Wynbrandt,Mark D. Ludman Pdf

Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.

Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Page : 419 pages
File Size : 48,6 Mb
Release : 2007-11-10
Category : Medical
ISBN : 9781597450393

Get Book

Genomic Disorders by James R. Lupski,Pawel T. Stankiewicz Pdf

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.