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Spitz's Genodermatoses: A Full Color Clinical Guide to Genetic Skin Disorders

Spitz's Genodermatoses: A Full Color Clinical Guide to Genetic Skin Disorders

9781451116519
1 260,00 zł
1 071,00 zł Zniżka 189,00 zł
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Opis

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
Szczegóły produktu
93033
9781451116519
9781451116519

Opis

Rok wydania
2024
Numer wydania
3
Oprawa
twarda
Liczba stron
464
Wymiary (mm)
212.73 x 276.23
Waga (g)
1480
    1. Cover
    2. Title Page
    3. Copyright
    4. Dedication
    5. Acknowledgments
    6. Contributors
    7. Introduction
    8. Contents
    9. CHAPTER 1 Disorders of Keratinization
    10. Ichthyosis Vulgaris
    11. Recessive X-Linked Ichthyosis
    12. Epidermolytic Ichthyosis (EI) and Superficial Epidermolytic Ichthyosis (SEI)
    13. Autosomal Recessive Congenital Ichthyosis (ARCI): Lamellar Ichthyosis
    14. Congenital Ichthyosiform Erythroderma
    15. Harlequin Ichthyosis
    16. Sjögren-Larsson Syndrome
    17. Refsum Syndrome
    18. Conradi-Hünermann Syndrome
    19. CHILD Syndrome
    20. Netherton Syndrome
    21. Erythrokeratodermia Variabilis
    22. KID Syndrome
    23. Diffuse Palmoplantar Keratoderma
    24. Howel-Evans Syndrome
    25. Vohwinkel Syndrome
    26. Mal de Meleda
    27. Papillon-Lefevre Syndrome
    28. Richner-Hanhart Syndrome
    29. Darier Disease
    30. Epidermal Nevus Syndrome (ENS)
    31. CHAPTER 2 Disorders of Pigmentation
    32. Oculocutaneous Albinism Type 1
    33. Oculocutaneous Albinism Type 2
    34. Hermansky-Pudlak Syndrome
    35. Chédiak-Higashi Syndrome
    36. Griscelli Syndrome
    37. Piebaldism
    38. Waardenburg Syndrome
    39. Pigmentary Mosaicism
    40. Incontinentia Pigmenti
    41. Noonan Syndrome With Multiple Lentigenes (Formerly LEOPARD syndrome)
    42. Carney Complex
    43. McCune-Albright Syndrome
    44. Neurofibromatosis Type 1
    45. Neurofibromatosis Type 2
    46. Tuberous Sclerosis
    47. CHAPTER 3 Disorders of Vascularization
    48. Sturge-Weber Syndrome (SWS)
    49. Klippel-Trenaunay Syndrome
    50. Cobb Syndrome
    51. Proteus Syndrome
    52. Beckwith-Wiedemann Syndrome
    53. PIK3CA-Related Overgrowth Spectrum (PROS)
    54. Von Hippel-Lindau Syndrome
    55. Ataxia-Telangiectasia
    56. Hereditary Hemorrhagic Telangiectasia (HHT) Syndrome
    57. Cutis Marmorata Telangiectatica Congenita
    58. Maffucci Syndrome
    59. Blue Rubber Bleb Nevus Syndrome
    60. Kasabach-Merritt Phenomenon (KMP)
    61. Multifocal Infantile Hemangiomas ± Extracutaneous Disease
    62. PHACE Syndrome
    63. CHAPTER 4 Disorders of Connective Tissue
    64. Ehlers-Danlos Syndrome
    65. Marfan Syndrome
    66. Cutis Laxa
    67. Pseudoxanthoma Elasticum
    68. Osteogenesis Imperfecta
    69. Buschke-Ollendorff Syndrome
    70. Focal Dermal Hypoplasia
    71. Lipoid Proteinosis
    72. Progeria
    73. Werner Syndrome
    74. Aplasia Cutis Congenita
    75. CHAPTER 5 Disorders With Malignant Potential
    76. Basal Cell Nevus Syndrome
    77. Lynch Syndrome, Muir-Torre Variant
    78. Dyskeratosis Congenita
    79. Gardner Syndrome
    80. Peutz-Jeghers Syndrome
    81. Cowden Syndrome
    82. Multiple Endocrine Neoplasia Type IIB
    83. Birt-Hogg-Dube Syndrome
    84. CHAPTER 6 Epidermolysis Bullosa
    85. Epidermolysis Bullosa Simplex
    86. Junctional Epidermolysis Bullosa
    87. Dystrophic Epidermolysis Bullosa
    88. Kindler Epidermolysis Bullosa
    89. CHAPTER 7 Disorders of Porphyrin Metabolism
    90. Porphyria Cutanea Tarda
    91. Variegate Porphyria
    92. Acute Intermittent Porphyria
    93. Hereditary Coproporphyria
    94. Erythropoietic Protoporphyria
    95. Congenital Erythropoietic Porphyria
    96. Hepatoerythropoietic Porphyria
    97. CHAPTER 8 Disorders With Photosensitivity
    98. Bloom Syndrome
    99. Rothmund-Thomson Syndrome
    100. Cockayne Syndrome
    101. Trichothiodystrophy
    102. Xeroderma Pigmentosum
    103. Hartnup Disease
    104. CHAPTER 9 Disorders With Immunodeficiency
    105. Wiskott-Aldrich Syndrome
    106. Chronic Granulomatous Disease
    107. Hyper-Immunoglobulin E Syndrome
    108. Severe Combined Immunodeficiency
    109. Hereditary Angioedema
    110. CHAPTER 10 Disorders of Hair and Nails
    111. Menkes Syndrome
    112. Björnstad Syndrome
    113. Argininosuccinic Aciduria
    114. Monilethrix
    115. Uncombable Hair Syndrome
    116. Hypohidrotic Ectodermal Dysplasia
    117. Hidrotic Ectodermal Dysplasia
    118. Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome
    119. Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate (AEC) Syndrome
    120. Pachyonychia Congenita
    121. Nail-Patella Syndrome
    122. CHAPTER 11 Disorders of Metabolism
    123. Alkaptonuria
    124. Fabry Disease
    125. Gaucher Disease
    126. Niemann-Pick Disease
    127. Mucopolysaccharidoses
    128. Multiple Carboxylase Deficiency
    129. Phenylketonuria
    130. Wilson Disease
    131. Acrodermatitis Enteropathica
    132. Hemochromatosis
    133. Homocystinuria
    134. Hyperlipoproteinemias
    135. CHAPTER 12 Disorders With Abnormal Chromosome Number
    136. Down Syndrome
    137. Turner Syndrome
    138. Noonan Syndrome
    139. Klinefelter Syndrome
    140. CHAPTER 13 Disorders With Short Stature
    141. Cornelia de Lange Syndrome
    142. Rubinstein-Taybi Syndrome
    143. Russell-Silver Syndrome
    144. Familial Dysautonomia
    145. Figure Credits
    146. Index
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