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.

Ichthyosis is a common term for a family of rare genetic skin illnesses indicated by dry, thickened, scaling or flaking skin. This Encyclopedia contains tests, causes and treatment options for 28 variants of the disease including Harlequin Baby and Ichthyosis Vulgaris.

This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases.

An unsurpassed visual archive of pediatric dermatology -- with more than 300 brand-new color images! Color Atlas of Pediatric Dermatology contains a collection of more than 900 full-color images that provide invaluable guidance for the diagnosis of both common and rare skin disorders of neonates, infants, and children. For each condition reviewed in the text, one or more clinical photographs are supplied, making differential diagnosis faster, easier, and more accurate. A concise, yet thorough overview of important clinical features, etiology, prognosis, and the most current therapeutic approaches is included for each disorder illustrated. Every page reflects the book's magnificent atlas format, with photographs linked to brief text that authoritatively describes the condition illustrated in each image, along with, in most cases, a one-sentence summary of suggested treatment protocols. New treatment modalities are included when applicable, reflecting the very latest clinical findings and treatment guidelines Revised and refreshed legends throughout the text to highlight the latest thinking in pediatric dermatology practice

A must-have reference for any researcher or scientist interested in cutaneous protective mechanisms, this guide provides expertly researched chapters on every aspect of stratum corneum structure, function, and development, as well as detailed sections on barrier-repair strategies and the role of barrier function in diseases such as atopic dermatiti

The various manifestations of ichthyoses are classified either by their appearance or their molecular genetics. This volume focuses on generalized, inherited disorders of cornification, which constitute an ever-enlarging group of monogenic diseases caused by a large number of genes that affect a broad array of cellular functions. The authors’ overview reflects their unique perspective that the clinical phenotype in the inherited ichthyoses mirrors a ‘best attempt’ by a metabolically compromised epidermis to maintain a barrier sufficiently impermeable for survival in a desiccating external environment.The basis for threats to survival is illuminated, and the systemic problems, including growth failure, also reflect a compromised barrier. A new consensus classification of these disorders is provided, and the distinguishing clinical features of each disorder are described. Further, the latest molecular genetic information is succinctly reviewed with up-to-date and comprehensive references. Yet, the major emphases of this volume are on disease pathogenesis and on the identification of key ultrastructural features.This publication will prove an invaluable aid to dermatologists, pediatric dermatologists and pediatricians dealing with patients with inherited ichthyoses. In addition, clinical geneticists and dermatopathologists will find it interesting reading.

A forthright, honest and rousingly triumphant memoir from a woman who has to live with a highly visible different appearancedue to a rare skin condition. Say hello to Carly. 'In fairytales,the characters who look different are often castas the villain or monsters. It's only when they shed their unconventional skinthat they are seen as "good" or less frightening. There are very fewstories where the character that looks different is the hero of the story ... I've been the hero of mystory - telling it on my own terms, proud about my facial difference anddisability, not wanting a cure for my rare, severe and sometimes confrontingskin condition, and knowing that I am beautiful even though I don't have beautyprivilege.' This honest, outspoken and thought-provoking memoir by award-winning writer and appearance activist Carly Findlay will challenge all your assumptions and beliefs about what it is like to have a visibly different appearance. Carly lives with a rare skin condition, Ichthyosis, and what she faces every day, and what she has to live with, will have you cheering for her and her courage and irrepressible spirit. This is both a moving memoir and a proud manifesto on disability and appearance diversity issues. 'Believe the hype - by turns frank, funny, and fearsome, Findlay's extraordinary memoir is an early contender for 2019's best Australian non-fiction ... a powerful and moving invitation to examine the structures of privilege and dehumanisation that we so desperately need address in this country.' Better Read Than Dead 'A proud celebration of appearance difference ... a valuable read.' Herald Sun 'Defiant, unsettling and thought-provoking' The Age

Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Written by a leading researcher in the field, Transporters in Drug Discovery and Development provides a comprehensive and practical guide to drug transporter families that are the most important for drug discovery and development. It covers: an overview of transporter families and organ distribution; clinical relevant drug-drug interaction; clinical relevant polymorphism; drug transporter related pharmacokinetic, pharmacodynamics and toxicity; in vitro/in vivo probes of drug transport studies; the practical methodologies of industrial transporter screening and translational aspect in drug discovery and developments. - A comprehensive overview of drug transporter families and their clinical relevance in drug discovery and development - Balanced coverage of molecular biology aspects and functional outcomes - State of art knowledge related to transporter-mediated DDI and the clinical relevance in pharmacokinetics, dynamics, and toxicity