Genodermatoses

Author: Joel L. Spitz
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781740883
Size: 23.80 MB
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"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].

Genodermatoses

Author: Source Wikipedia
Publisher: University-Press.org
ISBN: 9781230551524
Size: 62.22 MB
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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 116. Chapters: Turner syndrome, Prader-Willi syndrome, Joubert syndrome, Neurofibromatosis, Von Hippel-Lindau disease, Tuberous sclerosis, Freeman-Sheldon syndrome, Progeria, Treacher-Collins syndrome, Ataxia telangiectasia, Angelman syndrome, Johanson-Blizzard syndrome, Dyskeratosis congenita, Heterochromia iridum, Ectrodactyly-ectodermal dysplasia-cleft syndrome, LEOPARD syndrome, X-linked ichthyosis, Epidermolysis bullosa, Noonan syndrome, Bloom syndrome, POEMS syndrome, MELAS syndrome, Proteus syndrome, Keratosis pilaris, Epidermolytic hyperkeratosis, Crouzon syndrome, Keratolytic winter erythema, Costello syndrome, Adams-Oliver syndrome, Lamellar ichthyosis, Xeroderma pigmentosum, Apert syndrome, Klippel-Feil syndrome, Harlequin-type ichthyosis, Ichthyosis bullosa of Siemens, Kabuki syndrome, Werner syndrome, Silver-Russell syndrome, Albright's hereditary osteodystrophy, Infantile Refsum disease, Ichthyosis vulgaris, Oculodentodigital dysplasia, Hypohidrotic ectodermal dysplasia, McCune-Albright syndrome, Cockayne syndrome, Schindler disease, XXYY syndrome, Multiple sulfatase deficiency, Darier's disease, Epidermolysis bullosa dystrophica, Wolf-Hirschhorn syndrome, Acrodermatitis enteropathica, Rothmund-Thomson syndrome, Gardner's syndrome, Hay-Wells syndrome, Netherton syndrome, Papillon-Lefevre syndrome, Popliteal pterygium syndrome, Cronkhite-Canada syndrome, Hailey-Hailey disease, Cartilage-hair hypoplasia, Pachyonychia congenita, Conradi-Hunermann syndrome, Cardiofaciocutaneous syndrome, Ichthyosis hystrix, Blue rubber bleb nevus syndrome, Kindler syndrome, Zunich-Kaye syndrome, CHILD syndrome, Cutis verticis gyrata, Congenital ichthyosiform erythroderma, Townes-Brocks syndrome, Zimmermann-Laband syndrome, Acrocephalosyndactylia, Pfeiffer syndrome, Van der Woude syndrome, ..

Atlas Of Genodermatoses

Author: Ruggero Caputo
Publisher: CRC Press
ISBN: 1841842516
Size: 54.56 MB
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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

Author: Books Llc
Publisher: Books LLC
ISBN: 9781155934495
Size: 66.37 MB
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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 194. Not illustrated. Chapters: Adams-oliver Syndrome, Rombo Syndrome, Darier's Disease, Hallermann-Streiff Syndrome, Acrocephalosyndactylia, Cutis Verticis Gyrata, Rothmund-thomson Syndrome, Marinesco-sj gren Syndrome, Disseminated Superficial Actinic Porokeratosis, Sj gren-larsson Syndrome, Meleda Disease, Confluent and Reticulated Papillomatosis of Gougerot and Carteaud, Ibids Syndrome, Lelis Syndrome, Linear and Whorled Nevoid Hypermelanosis, Carvajal Syndrome, Atrophodermia Vermiculata, Dyschromatosis Universalis Hereditaria, Keratitis-ichthyosis-deafness Syndrome, Focal Dermal Hypoplasia, Keratosis Pilaris Atrophicans Faciei, Aplasia Cutis Congenita, Incontinentia Pigmenti Achromians, Franceschetti-klein Syndrome, Keratosis Follicularis Spinulosa Decalvans, Chondrodysplasia Punctata, X-Linked Recessive Chondrodysplasia Punctata, Clouston's Hidrotic Ectodermal Dysplasia, Scleroatrophic Syndrome of Huriez, Recessive Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Simplex With Muscular Dystrophy, Junctional Epidermolysis Bullosa, Epidermolysis Bullosa Simplex With Mottled Pigmentation, Pachyonychia Congenita Type I, Punctate Porokeratosis, Localized Epidermolysis Bullosa Simplex, Neutral Lipid Storage Disease, Rapp-hodgkin Syndrome, Linear Porokeratosis, Plaque-Type Porokeratosis, Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome, Acrokeratosis Verruciformis, Porokeratosis Palmaris et Plantaris Disseminata, Peeling Skin Syndrome, Junctional Epidermolysis Bullosa Gravis, Watson Syndrome, Ulnar-mammary Syndrome, Epidermolysis Bullosa Simplex of Ogna, Pachyonychia Congenita Type Ii, Tooth and Nail Syndrome, Relapsing Linear Acantholytic Dermatosis, Pityriasis Rotunda, Lentiginosis, Pibi(d)s Syndrome, Tricho-rhino-phalangeal Syndrome, Generalized Epidermolysis Bullosa Simplex, Ichthyosis Linearis Circ...

Atlas Of Genodermatoses Second Edition

Author: Gianluca Tadini
Publisher: CRC Press
ISBN: 1466598360
Size: 28.22 MB
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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.

Rna Based Therapies For Genodermatoses

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Abstract: Genetic disorders affecting the skin, genodermatoses, constitute a large and heterogeneous group of diseases, for which treatment is generally limited to management of symptoms. RNA‐based therapies are emerging as a powerful tool to treat genodermatoses. In this review, we discuss in detail RNA splicing modulation by antisense oligonucleotides and RNA trans‐splicing, transcript replacement and genome editing by in vitro‐transcribed mRNAs, and gene knockdown by small interfering RNA and antisense oligonucleotides. We present the current state of these therapeutic approaches and critically discuss their opportunities, limitations and the challenges that remain to be solved. The aim of this review was to set the stage for the development of new and better therapies to improve the lives of patients and families affected by a genodermatosis.

Research On Genodermatoses Using Novel Genome Editing Tools

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Genodermatoses comprise a clinically heterogeneous group of mostly devastating disorders affecting the skin. To date, treatment options have in general been limited to symptom relief. However, the recent technical evolution in genome editing has ushered in a new era in the development of causal therapies for rare monogenetic diseases such as genodermatoses. The present review revisits the advantages and drawbacks of engineered nuclease tools currently available: zinc finger nucleases (ZFNs), transcription activator‐like effector nucleases (TALENs), meganucleases, and – the most innovative – clustered regularly interspaced short palindromic repeats (CRISPR)‐associated (Cas) nuclease 9 (CRISPR/Cas9) system. A mechanistic overview of the different modes of action of these programmable nucleases as well as their significance for causal therapy of genodermatoses is presented. Remaining limitations and challenges such as efficient delivery and off‐target activity are critically discussed, highlighting both the past and future of gene therapy in dermatology.

A Multistep Approach To The Diagnosis Of Rare Genodermatoses

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Size: 40.48 MB
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Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications. In order to support the clinicians' interest for this complex and rapidly developing field of dermatology, we are going to present a multistep approach with some useful clues for the evaluation of patients suspected of having a genodermatosis.

Oral Manifestations Of Genodermatoses In Adults

Author: Meenal Verma
Publisher: LAP Lambert Academic Publishing
ISBN: 9783659323133
Size: 21.87 MB
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During the past years, our knowledge on genodermatoses has undergone dramatic changes. In the light of the present molecular research, the vehement discussions regarding nosological categories that prevailed in the past century are now coming to an end, and new avenues of thinking have been opened.Classically, the term genodermatoses is applied to the relatively rare single gene disorders.Genodermatoses may affect epidermal, dermal or specialized structures.Skin & oral cavity are akin to each other in several attributes; both are made up of stratified squamous cells, are keratinized & have ectodermal origin; hence frequently genodermatoses demonstrate oral involvement & in several conditions, the oral presentation is distinct, giving first inkling of an underlying genetic skin disorder