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Spitz's Genodermatoses: A Full Color Clinical Guide to Genetic Skin Disorders
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User-friendly and highly visual in approach, Spitzs Genodermatoses:: A Clinical Guide to Genetic Skin Disorders, 3rd Edition, is ideal for dermatologists, pediatricians, and family physicians for both board preparation and clinical practice. Drs. Jennifer L. Hand, Joel L. Spitz, and Jackson Glenn Turbeville provide complete, well-illustrated coverage of these complex and challenging inherited disorders, presenting each syndrome in an easy-to-read, two-page spread in a format designed for either in-depth study or at-a-glance reference. More than 300 full-color clinical photographs and full-body diagrams enhance coverage of each syndrome.
- Features bulleted text that summarizes patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis
- Includes significantly updated content—genetic mutations, pathogenesis, prognosis, clinical pearls, and management—as well as new illustrations throughout
- Covers new syndromes and new names for previously discussed syndromes, such as Epidermolytic Ichthyosis, Superficial Ichthyosis, Autosomal Recessive Congenital Ichthyosis, Pigmentary Mosaicism, Noonan Syndrome with Multiple Lentigenes, PIK3CA- Related Overgrowth Spectrum (PROS), Multiple Infantile Hemangiomas +- Extracutaneous Disease, Lynch Syndrome, Muir-Torre variant, and Kindler Epidermolysis Bullosa
- Contains boxed features that highlight clinical pearls and add insight and breadth to the material
Opis
- Rok wydania
- 2024
- Numer wydania
- 3
- Oprawa
- twarda
- Liczba stron
- 464
- Wymiary (mm)
- 212.73 x 276.23
- Waga (g)
- 1480
- Cover
- Title Page
- Copyright
- Dedication
- Acknowledgments
- Contributors
- Introduction
- Contents
- CHAPTER 1 Disorders of Keratinization
- Ichthyosis Vulgaris
- Recessive X-Linked Ichthyosis
- Epidermolytic Ichthyosis (EI) and Superficial Epidermolytic Ichthyosis (SEI)
- Autosomal Recessive Congenital Ichthyosis (ARCI): Lamellar Ichthyosis
- Congenital Ichthyosiform Erythroderma
- Harlequin Ichthyosis
- Sjögren-Larsson Syndrome
- Refsum Syndrome
- Conradi-Hünermann Syndrome
- CHILD Syndrome
- Netherton Syndrome
- Erythrokeratodermia Variabilis
- KID Syndrome
- Diffuse Palmoplantar Keratoderma
- Howel-Evans Syndrome
- Vohwinkel Syndrome
- Mal de Meleda
- Papillon-Lefevre Syndrome
- Richner-Hanhart Syndrome
- Darier Disease
- Epidermal Nevus Syndrome (ENS)
- CHAPTER 2 Disorders of Pigmentation
- Oculocutaneous Albinism Type 1
- Oculocutaneous Albinism Type 2
- Hermansky-Pudlak Syndrome
- Chédiak-Higashi Syndrome
- Griscelli Syndrome
- Piebaldism
- Waardenburg Syndrome
- Pigmentary Mosaicism
- Incontinentia Pigmenti
- Noonan Syndrome With Multiple Lentigenes (Formerly LEOPARD syndrome)
- Carney Complex
- McCune-Albright Syndrome
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- Tuberous Sclerosis
- CHAPTER 3 Disorders of Vascularization
- Sturge-Weber Syndrome (SWS)
- Klippel-Trenaunay Syndrome
- Cobb Syndrome
- Proteus Syndrome
- Beckwith-Wiedemann Syndrome
- PIK3CA-Related Overgrowth Spectrum (PROS)
- Von Hippel-Lindau Syndrome
- Ataxia-Telangiectasia
- Hereditary Hemorrhagic Telangiectasia (HHT) Syndrome
- Cutis Marmorata Telangiectatica Congenita
- Maffucci Syndrome
- Blue Rubber Bleb Nevus Syndrome
- Kasabach-Merritt Phenomenon (KMP)
- Multifocal Infantile Hemangiomas ± Extracutaneous Disease
- PHACE Syndrome
- CHAPTER 4 Disorders of Connective Tissue
- Ehlers-Danlos Syndrome
- Marfan Syndrome
- Cutis Laxa
- Pseudoxanthoma Elasticum
- Osteogenesis Imperfecta
- Buschke-Ollendorff Syndrome
- Focal Dermal Hypoplasia
- Lipoid Proteinosis
- Progeria
- Werner Syndrome
- Aplasia Cutis Congenita
- CHAPTER 5 Disorders With Malignant Potential
- Basal Cell Nevus Syndrome
- Lynch Syndrome, Muir-Torre Variant
- Dyskeratosis Congenita
- Gardner Syndrome
- Peutz-Jeghers Syndrome
- Cowden Syndrome
- Multiple Endocrine Neoplasia Type IIB
- Birt-Hogg-Dube Syndrome
- CHAPTER 6 Epidermolysis Bullosa
- Epidermolysis Bullosa Simplex
- Junctional Epidermolysis Bullosa
- Dystrophic Epidermolysis Bullosa
- Kindler Epidermolysis Bullosa
- CHAPTER 7 Disorders of Porphyrin Metabolism
- Porphyria Cutanea Tarda
- Variegate Porphyria
- Acute Intermittent Porphyria
- Hereditary Coproporphyria
- Erythropoietic Protoporphyria
- Congenital Erythropoietic Porphyria
- Hepatoerythropoietic Porphyria
- CHAPTER 8 Disorders With Photosensitivity
- Bloom Syndrome
- Rothmund-Thomson Syndrome
- Cockayne Syndrome
- Trichothiodystrophy
- Xeroderma Pigmentosum
- Hartnup Disease
- CHAPTER 9 Disorders With Immunodeficiency
- Wiskott-Aldrich Syndrome
- Chronic Granulomatous Disease
- Hyper-Immunoglobulin E Syndrome
- Severe Combined Immunodeficiency
- Hereditary Angioedema
- CHAPTER 10 Disorders of Hair and Nails
- Menkes Syndrome
- Björnstad Syndrome
- Argininosuccinic Aciduria
- Monilethrix
- Uncombable Hair Syndrome
- Hypohidrotic Ectodermal Dysplasia
- Hidrotic Ectodermal Dysplasia
- Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome
- Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate (AEC) Syndrome
- Pachyonychia Congenita
- Nail-Patella Syndrome
- CHAPTER 11 Disorders of Metabolism
- Alkaptonuria
- Fabry Disease
- Gaucher Disease
- Niemann-Pick Disease
- Mucopolysaccharidoses
- Multiple Carboxylase Deficiency
- Phenylketonuria
- Wilson Disease
- Acrodermatitis Enteropathica
- Hemochromatosis
- Homocystinuria
- Hyperlipoproteinemias
- CHAPTER 12 Disorders With Abnormal Chromosome Number
- Down Syndrome
- Turner Syndrome
- Noonan Syndrome
- Klinefelter Syndrome
- CHAPTER 13 Disorders With Short Stature
- Cornelia de Lange Syndrome
- Rubinstein-Taybi Syndrome
- Russell-Silver Syndrome
- Familial Dysautonomia
- Figure Credits
- Index
-
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