Gianluca Tadini – författare
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2 881 kr
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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.
3 428 kr
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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.
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Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as the first prenatal protein replacement therapy for a genetic disease, X-linked hypohidrotic ectodermal dysplasia. The chapters of this book address all relevant topics, starting with epidemiology and embryology, disease classification, molecular biology, EDA1-associated ED, WNT10A-related ED, and p63-related ED. A chapter on ED caused by defects of structural proteins is included and one specifically devoted to differential diagnoses. Specific chapters describe diagnostic assessments and treatment: odontostomatological signs and therapy, ophthalmological or otorhinolaringoiatric signs, other organ involvement, neurological and neuropsychological issues. The final part is dedicated to the most recent developments in molecular therapy and the extremely important role of parents'' and patients'' associations.Written by internationally renowned experts, this handy resource will be of valuable help for a variety of specialists who deal with ectodermal dysplasias in their daily clinical work, e.g., pediatricians, dermatologists, ENT-specialists, dentists.
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This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference.
NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations.
In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius.
All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.