Genodermatoses

"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].

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fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date.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.

Genodermatoses are often considered rare diseases seldom seen by practicing clinicians, but as a result, professionals often have little experience or confidence with their diagnosis when they are called upon for a clinical case. This text presents a comprehensive illustrated overview of almost 200 inherited diseases of the skin, hair, and nails. Examples have been expanded, with new images added to provide clear examples, alongside coherent and comprehensive explanations to enable clinicians to easily identify and source relevant information. This resource encompasses a varied range of skin diseases, providing accessible and in-depth information to help familiarise clinicians. The entry for each disease provides background, followed by common characterisations, manifestations, laboratory findings, genetics, cutaneous and extracutaneous findings, differential diagnosis, an overview of complications and recommended follow-ups. Authored by dermatologists and geneticists, this is an atlas of scientific research which updates established information with current studies and references. In its third edition, this text becomes an invaluable resource for dermatologists and pediatricians.

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 ca

This book provides clinicians, clinicians-in-training and researchers with a unique rapid-access educational resource on the spectrum of issues at the intersection of skin and malignancy. In it, there is clinical detail provided on how the skin reveals systemic malignancy via cutaneous metastases, genodermatoses or paraneoplastic dermatoses. At the same time, it reviews pharmacologic treatment of internal malignancy and how this can result in cutaneous adverse reactions; conversely, therapeutics for skin conditions can increase risk for internal malignancy. As arguably the most significant cutaneous malignancy, melanoma receives specific attention for its metastatic potential, current diagnostic advances, and recent therapeutic breakthroughs. Dermato-Oncology Study Guide: Essential Text and Review serves a critical educational need for clinicians caring for patients with systemic malignancy by creating an easy-to-use resource that provides practical tools to recognize skin signs of internal malignancy. Furthermore it helps in anticipating and managing adverse reactions of therapeutics for systemic malignancy, and gives the reader the opportunity to weigh the risks of malignancy of pharmacologic agents for skin disease.

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.

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

Quickly and confidently evaluate and diagnose skin biopsies with Practical Dermatopathology. Written from the perspective of both the histopathologist and clinician, this popular medical reference allows you to search by disease or pathologic feature to quickly locate key criteria and a differential diagnosis. Practical and portable, Practical Dermatopathology is your ideal high-yield microscope companion! Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Make accurate, complete reports by fully understanding clinical correlations. Accurately diagnose a wide range of conditions using over 700 full-color illustrations, with leader lines pointing out key pathologic and clinical features as they would be seen in daily practice. Find critical information quickly through extensive cross-referencing of differential diagnosis lists by finding and disease. Clinical lists are based on location, symptoms, duration, arrangement, morphology, and color. Pathologic lists include major categories such as epidermal changes, dermal changes, and cell types. Gauge your mastery of the material with online multiple-choice review questions that provide an ideal study resource for board review or recertification. Stay current with comprehensive updates throughout that include the latest advancements in the diagnosis of lymphoma as well as unique differential diagnosis lists, full-color pathology images, supporting clinical photographs, and multiple choice questions. Access the complete contents online - fully searchable, with downloadable image library, bonus clinical correlation images, review questions, and more, at www.expertconsult.com.

Epidermolysis bullosa (EB) is a heterogenous group of genodermatoses characterized by the formation of blisters and erosions on skin and mucous membrans from birth on. The cause are mutations in the genes of structural proteins of the junction between epidermis and dermis. This book deals with the treatment of this skin disease itself and its many extracutaneous complications. There is no previous book which has been focused on the therapy and it will be based on evidence-based data derived from the world ́s largest cohort of inherited EB-patients, the American EB Registry. An important chapter will discuss gene therapy in hereditary EB which has been recently successfully performed within a localized skin site on a single EB patient as a proof-of-principle test. Given its unique collective contents, the monograph will provide the primary source for clinical informations of this oftentimes severe multiorgan disease.

Specially designed for dermatologists, pediatricians, and family physicians, this user-friendly guide to genetic skin disorders is an ideal resource for both board preparation and clinical practice. To help make learning a difficult subject more efficient and effective, the text takes a user-friendly, visual approach, featuring more than 300 full-color illustrations and a format designed for maximum retention of content. Features: - 20-30% new material -- update genetic mutations, pathogenesis, prognosis, clinical pearls, management - Add 5 new entities - Update clinical photos under line drawings (~ 20% new) - Boxed features highlight clinical pearls and add insight and breadth to the material - Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis - Each syndrome is presented in easy-to-read, two-page spreads, allowing you to read material in depth or at-a-glance - Full body diagrams and clinical photographs of each syndrome