КНИЖАРНИЦА ЗА СПЕЦИАЛИЗИРАНА МЕДИЦИНСКА ЛИТЕРАТУРА

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Genetic Skin Disorders

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This book provides a comprehensive survey which details the clinical abnormalities, histopathology (including both light and electron microscopy), biochemical and molecular information, treatment, mode of inheritance and recurrence risks, prenatal diagnosis, differential diagnosis, and support for inherited dermatologic disorders. Clinicians will find the text comprehensible and practical. The author has succeeded in presenting the material in a language accessible to the non-geneticist. The appendix allows physicians to quickly find the correct diagnoses to consider. The listing of specific patient support groups will be welcomed by counselors and physicians who wish to provide such information to their patients. The annotated bibliography for each entry is carefully selected to include the key reviews and pivotal papers on the subject from journals and other sources readily available to practitioners. The volume is lavishly illustrated with over 500 color and some 200 black-and-white top-quality photographs, many of which come from the author’s private collection. Virginia Sybert’s training and experience in both dermatology and medical genetics have been brought to bear in this volume lucid synthesis of information on genetic diseases of the skin. Current hypotheses and classic assumptions are presented and assessed in the light of her own clinical experience. Any physician or genetic counselor faced with a patient in whom the potential for a genetic disorder of the skin exists will find this book a practical tool of immense interest.

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This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author’s extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest. The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.

Table of Contents

Contents
Preface
Acknowledgments
Introduction
1. PRACTICAL INHERITANCE
2. DISORDERS OF THE EPIDERMIS: DIFFERENTIATION AND KINETICS
Ichthyoses
Bullous Congenital Ichthyosiform Erythroderma
Harlequin Ichthyosis
Ichthyosis Bullosa of Siemens
Ichthyosis Hystrix
Ichthyosis Vulgaris
Lamellar Exfoliation of the Newborn
Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma
Netherton Syndrome
Peeling Skin Syndrome
Restrictive Dermopathy
X-linked Recessive Ichthyosis
Erythrokeratodermas
Erythrokeratodermia Variabilis et Progressiva
Pityriasis Rubra Pilaris
Acrokeratoderma
Acrokeratoelastoidosis
Acrokeratosis Verruciformis (Hopf)
Hereditary Palmoplantar Keratodermas
Hereditary Palmoplantar Keratoderma with Deafness
Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis
Hereditary Palmoplantar Keratoderma Howel-Evans
Hereditary Palmoplantar Keratoderma Olmsted
Hereditary Palmoplantar Keratoderma Punctate
Hereditary Palmoplantar Keratoderma Striata
Hereditary Palmoplantar Keratoderma Unna-Thost
Hereditary Palmoplantar Keratoderma Vohwinkel
Keratolytic Winter Erythema
Mal de Meleda
Papillon-Lefèvre
Scleroatrophic and Keratotic Dermatosis of the Limbs
Porokeratoses
Porokeratosis of Mibelli
Other Disorders of the Epidermis
Absence of Dermatoglyphics
Acanthosis Nigricans
Darier-White Disease
Hereditary Painful Callosities
Keratosis Follicularis Spinulosa Decalvans
Knuckle Pads
Kyrle/Flegel Disease
Ulerythema Ophryogenes
Syndromic Disorders
CHILD Syndrome
Chondrodysplasia Punctata
Ichthyosis with Hypogonadism
KID Syndrome
Neu-Laxova Syndrome
Neutral Lipid Storage Disease with Ichthyosis
Refsum Disease
Richner-Hanhart Syndrome
Sjögren-Larsson Syndrome
Cohesion
Epidermolysis Bullosa
Epidermolysis Bullosa Simplex Dowling-Meara
Epidermolysis Bullosa Simplex Generalized
Epidermolysis Bullosa Simplex Localized
Epidermolysis Bullosa Junctional Generalized
Epidermolysis Bullosa Junctional Generalized Atrophic Benign
Epidermolysis Bullosa Dystrophica Cockayne-Touraine
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens
Epidermolysis Bullosa Dystrophica Pretibial
Transient Bullous Dermolysis of the Newborn
Hailey-Hailey Disease
3. DISORDERS OF EPIDERMAL APPENDAGES
Hair
Alopecias
Loose Anagen Hair
Male Pattern Baldness
Marie Unna Syndrome
Hirsutism
Gingival Fibromatosis and Hypertrichosis
Hypertrichosis Lanuginosa Congenita
Leprechaunism
Localized Hypertrichosis
Hair Shaft Abnormalities, Isolated
Monilethrix
Pili Annulati
Pili Torti
Pili Trianguli Et Canaliculi
Trichorrhexis Invaginata
Trichorrhexis Nodosa
Woolly Hair
Hair Shaft Abnormalities, Syndromic
Menkes Disease
Trichodentoosseous Syndrome
Trichorhinophalangeal Syndrome
Trichothiodystrophy
Nails
Nail Disorders, Isolated
Congenital Malalignment of the Great Toenails
Familial Dystrophic Shedding of the Nails
Leukonychia
Twenty-Nail Dystrophy
Nail Disorders, Syndromic
Nail-Patella Syndrome
Onychotrichodysplasia and Neutropenia
Pachyonychia Congenita
Sweat Glands
Hidradenitis Suppurativa
Hyperhidrosis
Multiple Syringomas
Sebaceous Glands
Eruptive Vellus Hair Cysts
Familial Dyskeratotic Comedones
Oral-Facial-Digital Syndrome Type I
Steatocystoma Multiplex
Ectodermal Dysplasia Syndromes
AEC Syndrome
Clouston Syndrome
EEC Syndrome
Focal Facial Dermal Dysplasia
Gapo Syndrome
Hypohidrotic Ectodermal Dysplasia
Tooth and Nail Syndrome
4. DISORDERS OF PIGMENTATION
Hyperpigmentation
Carney Complex
Dowling-Degos Disease
Dyskeratosis Congenita
Fanconi Anemia
H syndrome
Hemochromatosis
Incontinentia Pigmenti
LEOPARD Syndrome
Linear and Whorled Nevoid Hypermelanosis
McCune-Albright Syndrome
Naegeli Syndrome
Neurofibromatosis
Nevus Phakomatosis Pigmentovascularis
Peutz-Jeghers Syndrome
Universal Melanosis
Hypopigmentation
Albinisms
Albinism with Deafness
Hermansky-Pudlak Syndrome
Oculocutaneous Albinism Tyrosinase Negative
Oculocutaneous Albinism Tyrosinase Positive
Yellow Mutant Albinism
Cross Syndrome
Hypomelanosis of Ito
Piebaldism
Premature Canities
Vitiligo
Waardenburg Syndrome Types 1, 2, 3, and 4
5. DISORDERS OF THE DERMIS
Collagen
Ainhum
Amniotic Bands
Buschke-Ollendorff Syndrome
Dermatosparaxis
Ehlers-Danlos Syndromes
Ehlers-Danlos Types I, II, and III
Ehlers-Danlos Type IV
Ehlers-Danlos Type VI
Ehlers-Danlos Type VIII
Reactive Perforating Collagenosis
Elastin
Costello Syndrome
Cutis Laxa
Pseudoxanthoma Elasticum
Vascular
Ataxia Telangiectasia
Venous Malformations, Multiple Cutaneous and Mucosal
Cutis Marmorata Telangiectatica Congenita
Fabry Syndrome
Familial Flame Nevi
Hereditary Glomus Tumors
Hereditary Hemorrhagic Telangiectasia
Klippel-Trenaunay-Weber Syndrome
Maffucci Syndrome
Sturge-Weber Syndrome
Mixed
Aplasia Cutis Congenita
Focal Dermal Hypoplasia
Tuberous Sclerosis Complex
Other Disorders of the Dermis
Albright Hereditary Osteodystrophy
Cutis Verticis Gyrata
Familial Dysautonomia
François Syndrome
Hyaline Fibromatosis Syndrome
Lipoid Proteinosis
Multiple Pterygia
6. DISORDERS OF SUBCUTANEOUS TISSUE
Cerebrotendinous Xanthomatosis
Familial Multiple Lipomatosis
Familial Symmetric Lipomatosis
Fibrodysplasia Ossificans Progressiva
Lipogranulomatosis
Partial Lipodystrophy
Berardinelli-Seip Syndrome
7. LYMPHEDEMA
Cholestasis-Lymphedema Syndrome
Distichiasis and Lymphedema
Hereditary Lymphedema
8. URTICARIA
Familial Cold Urticaria
Hereditary Angioedema
Melkersson-Rosenthal Syndrome
Muckle-Wells Syndrome
NOMID/CINCA
Urticaria Pigmentosa
9. OTHER DISORDERS
Congenital Erosive and Vesicular Dermatosis
Erythromelalgia
Michelin Tire Baby
Stiff Skin
10. TUMORS/HAMARTOMAS
Basal Cell Nevus Syndrome
Cowden syndrome
Cylindromatosis
Dysplastic Nevus Syndrome
Epidermal Nevus
Gardner Syndrome
Giant Congenital Nevus
Hereditary Keratoacanthomas
Hereditary Leiomyomatosis and Renal Cancer
Infantile Myofibromatosis
Multiple Endocrine Neoplasia Types 1, 2/2A, and 2B/3
Pilomatricoma
Proteus Syndrome
Sebaceous Nevus Syndrome
Tumoral Calcinosis
11. METABOLIC DISEASE
Porphyrias
Congenital Erythropoietic Porphyria
Erythropoietic Protoporphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Variegate Porphyria
Mucopolysaccharidoses
Hunter Syndrome
Other Metabolic Disorders
Acrodermatitis Enteropathica
Alkaptonuria
Biotinidase Deficiency
Familial Cutaneous Amyloidosis
Prolidase Deficiency
12. PREMATURE AGING
Cockayne Syndrome
De Barsy Syndrome
Hallermann-Streiff Syndrome
Hutchinson-Gilford Progeria
Werner Syndrome
13. PHOTOSENSITIVITY
Bloom Syndrome
Hartnup Disorder
Kindler Syndrome
Polymorphous Light Eruption
Rothmund-Thomson Syndrome
Xeroderma Pigmentosum
14. IMMUNE DEFICIENCY DISEASES
Chediak-Higashi Disease
Chronic Granulomatous Disease
Epidermodysplasia Verruciformis
Familial Mucocutaneous Candidiasis
Griscelli Syndrome Types 1,2 and 3
Job Syndrome
Mucoepithelial Dysplasia
Wiskott-Aldrich Syndrome
Appendix A: Glossary
Appendix B: Differential Diagnosis by Skin Sign
Figure Credits

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