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Book
Mosaicism in human skin : understanding nevi, nevoid skin disorders, and cutaneous neoplasia
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ISBN: 3030899365 3030899373 Year: 2023 Publisher: Cham, Switzerland : Springer,

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Mosaicism in Human Skin
Authors: --- ---
ISBN: 9783030899370 9783030899363 9783030899387 9783030899394 Year: 2023 Publisher: Cham Springer International Publishing :Imprint: Springer

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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. .


Book
Nevogenesis : mechanisms and clinical implications of Nevus development
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ISBN: 3642283969 3642283977 Year: 2012 Publisher: Heidelberg : Springer,

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Paul Gerson Unna’s “Abtropfung” theory that nevi develop through migration of nevus cells from the epidermis to the dermis prevailed for almost a century until the “Hochsteigerung” theory postulated the reverse pattern of migration based on newly acquired observations from histopathology and studies of embryogenesis. Most recently, however, new insights gained from epidemiology, cross-sectional and longitudinal studies of nevi, dermoscopy and confocal microscopy, and cellular and molecular studies have brought into question both of the aforementioned theories. This book provides a comprehensive guide to current knowledge about nevogenesis by presenting these latest advances and in addition discusses issues yet to be resolved. It will assist practicing physicians in effectively managing patients with a variety of nevi and will also be of great value to researchers in the field. Importantly, since nevi are associated with an increased risk of melanoma, understanding nevogenesis may help to unravel some of the mysteries of melanomagenesis.


Book
Histological Diagnosis of Nevi and Melanoma
Authors: ---
ISBN: 3642373100 3642373119 Year: 2014 Publisher: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer,

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The histopathologic interpretation of melanocytic neoplasms is probably the most difficult task in the field of dermatopathology. The second edition of this text and atlas depicts a broad range of the most important and most challenging melanocytic lesions that histopathologists might encounter. Each case is illustrated with at least three high-quality color photographs and is commented on at length, highlighting the diagnostic clues. The goal of the authors is to assist both general pathologists and dermatopathologists in making an accurate diagnosis applicable to their daily practice, and one that can be understood by clinicians. They achieve this by providing criteria that can serve as a sound basis for an unequivocal diagnosis in most cases. The reader will find Histological Diagnosis of Nevi and Melanoma to be an invaluable guide to correct diagnosis even in difficult or rare cases.


Book
Pathology of Melanocytic Nevi and Melanoma
Authors: --- ---
ISBN: 364238384X 3642383858 Year: 2014 Publisher: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer,

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Highly acclaimed and considered the leading reference in the field, Pathology of Melanocytic Nevi and Melanoma has once again been fully revised, updated, and expanded to reflect the most recent advances and techniques in the field of melanoma pathology. New chapters on mucosal melanoma, ocular melanoma, and pigmented lesions of the nail apparatus have been included in this new edition. The successful focus and format of the previous editions have been preserved. Each lesion and diagnosis is clearly illustrated with the aid of a wealth of digitally enhanced full-color photomicrographs. A concise description of the clinical features, histopathology, differential diagnosis, and outstanding characteristics of each lesion provides readers with a quick yet comprehensive overview of each topic covered. Pathology of Melanocytic Nevi and Melanoma is the essential reference for every practicing dermatopathologist, pathologist, dermatologist, and cancer research scientist today.


Book
Pathology of Challenging Melanocytic Neoplasms : Diagnosis and Management
Authors: --- ---
ISBN: 9781493914449 149391443X 9781493914432 1493914448 Year: 2015 Publisher: New York, NY : Springer New York : Imprint: Springer,

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Pathology of Challenging Melanocytic Neoplasms offers a dynamic text where readers will encounter a broad spectrum of challenging melanocytic lesions, both benign and malignant, and acquire a solid, working knowledge that they can immediately apply to daily diagnosis. The volume emphasizes the practical application of basic morphologic principles, immunohistochemistry, and ancillary methods in order to secure a confident diagnosis. Rather than being yet another encyclopedic work of reference, this volume takes a fresh approach as it resembles a series of stimulating seminars employing exemplary case material to highlight, illustrate, and succinctly discuss the key points. To this end, the reader is presented first with a section of introductory chapters and is then guided through a series of cases that pose a significant diagnostic challenge. By comprehensively comparing and contrasting two or more related entities, each such chapter illuminates an intellectual pathway through which an important diagnostic puzzle can be solved. To broaden the differential diagnosis even further, additional illustrative cases are added to each discussion. Tables also summarize key points. Written by experts in the field, Pathology of Challenging Melanocytic Neoplasms is of great value to surgical pathologists in practice and dermatologists as well as residents and fellows training in these specialties.


Book
Molecular Basis of Inherited Diseases in Companion Animals
Authors: ---
Year: 2021 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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This book includes a collection of publications describing the molecular etiology of inherited diseases and conditions in companion animals (dogs and cats). In addition to contributing to the health of companion animals, this research also benefits humans that have similar types of diseases.

Keywords

Research & information: general --- Biology, life sciences --- Canis familiaris --- dermatology --- immunology --- animal model --- skin --- TLR7 --- toll-like receptor --- syndecan binding protein --- syntenin-1 --- systemic lupus erythematosus --- SLE --- CLE --- whole-genome sequencing --- craniomandibular osteopathy --- calvarial hyperostotic syndrome --- Caffey disease --- infantile cortical hyperostosis --- rare disease --- SLC37A2 --- COL1A1 --- SLC35D1 --- Canis lupus familiaris --- whole-genome sequence --- genodermatosis --- keratinocyte --- SAM syndrome --- precision medicine --- dog --- desmosome --- acantholysis --- calcium --- veterinary medicine --- feline --- Felis catus --- brain malformation --- BMP12 --- neurodevelopment --- genetics --- genomics --- mendelian traits --- genome-wide association study --- whole genome sequencing --- mitochondrion --- phosphoenolpyruvate-carboxykinase --- inborn error of metabolism --- encephalopathy --- SSADHD --- ALDH5A1 --- GABA --- 4-hydroxybutyric acid --- succinic semialdehyde --- GWAS --- inherited --- whole genome sequence --- wgs --- laminin --- Bardet–Biedl syndrome (BBS) --- primary cilia --- ciliopathy --- BBS8 --- progressive retinal atrophy (PRA) --- retinitis pigmentosa --- canine --- dystrophinopathy --- Duchenne --- immunohistochemistry --- neurometabolic disorder --- CHILD syndrome --- ILVEN --- epidermal nevus --- diabetes mellitus --- Burmese cats --- susceptibility --- single-nucleotide polymorphism --- genetic markers --- LIPH --- obesity --- companion animals --- metabolic disease --- comparative genomics --- dogs --- cats --- horses --- contactin --- neurological disorder --- Leonberger --- Saint Bernard --- Labrador retriever --- n/a --- Bardet-Biedl syndrome (BBS)

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