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Ruggieri, Martino

Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Ruggieri, Martino - Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, ebook

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Table of contents

1. Embryology of Neurocutaneous Syndromes
Laura Flores-Sarnat, Harvey B. Sarnat

2. Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome
Ignacio Pascual-Castroviejo

3. Neurofibromatosis type 1 & Related Disorders
Martino Ruggieri, Meena Upadhyaya, Concezio Di Rocco, Annalia Gabriele, Ignacio Pascual-Castroviejo

4. Neurofibromatosis type 2 and related disorders
Scott Randall Plotkin

5. The Tuberous Sclerosis Complex
Sergiusz Jóźwiak, Nicola Migone, Martino Ruggieri

6. Von Hippel-Lindau Disease
S. Taylor Jarrell, Edward H. Oldfield, Russell R. Lonser

7. Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena)
Martino Ruggieri, Orhan Konez, Ignacio Pascual-Castroviejo

8. Klippel-Trenaunay Syndrome
Martino Ruggieri, Concezio Di Rocco, Orhan Konez

9. Parkes Weber Syndrome
Orhan Konez, Martino Ruggieri, Concezio Di Rocco

10. Sturge-Weber Syndrome
Ignacio Pascual-Castroviejo, Orhan Konez, Concezio Di Rocco, Martino Ruggieri

11. Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia)
Haneen Sadick, Maliha Sadick, Karl Hörmann

12. Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)
Pablo Lapunzina, Jill Clayton-Smith

13. Blue Rubber Bleb Nevus Syndrome (Brbns)
Maria Carmen Boente, Maria Rosa Cordisco

14. Wyburn-Mason Syndrome
Martino Ruggieri, Orhan Konez, Concezio Rocco

15. Maffucci Syndrome
Leida B. Rozeman, Yvonne M. Schrage, Judith V. M. G. Bovée, Pancras C. W. Hogendoorn

16. Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism)
Ignacio Pascual-Castroviejo, Martino Ruggieri

17. Phylloid Hypomelanosis
Carmelo Schepis

18. Incontinentia Pigmenti
Ignacio Pascual-Castroviejo, Martino Ruggieri

19. Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS)
Marimar Saez-De-Ocariz, Luz Orozco-Covarrubias, Carola Duràn-McKinster, Ramòn Ruiz-Maldonado

20. Leopard Syndrome
Sergiusz Jóźwiak

21. Nevus of OTA
Ignacio Pascual-Castroviejo, Martino Ruggieri

22. Phacomatosis Pigmentokeratotica
Maria del Carmen Boente, Rudolf Happle

23. Phakomatosis Pigmentovascularis
Ramón Ruiz-Maldonado, Carola Duràn-McKinster, Luz Orozco-Covarrubias, Marimar Saez-De-Ocariz

24. Speckled Lentiginous Nevus Syndrome
Martino Ruggieri

25. Cutis Tricolor (Ruggieri-Happle Syndrome)
Martino Ruggieri, Mario Roggini, Ingo Kennerknecht, Carmelo Schepis, Paola Iannetti

26. Neurocutaneous Melanosis
Sergiusz Józwiak, Julita Borkowska

27. Genetics of Pten Hamartoma Tumor Syndrome (PHTS)
Corrado Romano

28. Lhermitte-Duclos and Cowden Disease Complex
Dennis A. Nowak

29. Bannayan-Riley-Ruvalcaba Syndrome
Corrado Romano

30. Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)
Sergiusz Jóźwiak, Ignacio Pascual-Castroviejo

31. Proteus Syndrome
Martino Ruggieri, Ignacio Pascual-Castroviejo

32. Epidermal Nevus Syndromes
Jeffrey L. Sugarman

33. Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome)
Ignacio Pascual-Castroviejo, Martino Ruggieri

34. Inflammatory Linear Verrucous Epidermal Nevus (Ilven)
Martino Ruggieri, Jeffrey L. Sugarman

35. Nevus Comedonicus Syndrome
Jeffrey L. Sugarman

36. Becker’s Nevus Syndrome (Pigmentary Hairy Epidermal Nevus)
Martino Ruggieri, Simone Gangarossa

37. Child Syndrome
Ramón Ruiz-Maldonado, Luz Orozco-Covarrubias, Carola Duran-McKinster, Marimar Saez-De-Ocariz

38. Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2)
Martino Ruggieri, Ignacio Pascual-Castroviejo

39. SjÖgren-Larsson Syndrome
Martino Ruggieri, Ignacio Pascual-Castroviejo

40. Kid Syndrome (Keratitis-Ichthyosis-Deafness)
Luz Orozco-Covarrubias, Marimar Saez-De-Ocariz, Carola Durán-McKinster, Ramón Ruiz-Maldonado

41. Papillon-Lefèvre Syndrome (PLS)
Christer Ullbro

42. Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency)
Luz Orozco-Covarrubias, Marimar Saez-De-Ocariz, Carola Durán-McKinster, Ramón Ruiz-Maldonado

43. Darier’s Disease
Marimar Saez-De-Ocariz, Luz Orozco-Covarrubias, Carola Durán-McKinster, Ramón Ruiz-Maldonado

44. Dyskeratosis Congenita
Marimar Saez-De-Ocariz, Luz Orozco-Covarrubias, Carola Durán-McKinster, Ramón Ruiz-Maldonado

45. Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
Robert J. Gorlin†

46. Multiple Endocrine Neoplasia Type 2B
Electron Kebebew, Jessica E. Gosnell, Emily Reiff

47. Turcot Syndrome
Laura Papi

48. Degos’ Disease (Malignant Atrophic Papulosis)
Carmelo Schepis, Maddalena Siragusa, Carmelo Amato, Martino Ruggieri

49. Ataxia-Telangiectasia
Luciana Chessa, Agata Polizzi, Martino Ruggieri

50. Nijmegen Breakage Syndrome
Corry Weemaes, Luciana Chessa

51. Xeroderma Pigmentosum
Miria Stefanini, Kenneth H. Kraemer

52. Cockayne Syndrome
Miria Stefanini, Martino Ruggieri

53. Trichothiodystrophy
Miria Stefanini, Martino Ruggieri

54. Progeria and Progeroid Syndromes (Premature Ageing Disorders)
Ignacio Pascual-Castroviejo, Martino Ruggieri

55. Focal Dermal Hypoplasia Syndrome (Goltz Syndrome)
Ignacio Pascual-Castroviejo, Martino Ruggieri

56. Ehlers-Danlos Syndromes
Salvatore Savasta, Maurizia Valli

57. Lipoid proteinosis
Takahiro Hamada

58. Progressive facial hemiatrophy (parry-romberg syndrome)
Ignacio Pascual-Castroviejo, Domenico A. Restivo, Pietro Milone

59. Linear scleroderma (morphoea) “en coup de sabre”
Ignacio Pascual-Castroviejo, Martino Ruggieri

60. Unilateral Somatic and Intracranial Hypoplasia
Ignacio Pascual-Castroviejo

61. Oculocerebrocutaneous Syndrome (Delleman Syndrome)
Ignacio Pascual-Castroviejo

62. Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome)
Ignacio Pascual-Castroviejo, Martino Ruggieri

63. Macrodactyly-Lipofibromatous Hamartoma of Nerves
Carola Duràn-Mckinster, Luz Orozco-Covarrubias, Marimar Saez-De-Ocariz, Ramòn Ruiz-Maldonado

64. Chime Syndrome (Zunich Syndrome)
Janice Zunich, Nancy Esterly

65. Hypohidrotic Ectodermal Dysplasia (HED)
Martino Ruggieri, Ignacio Pascual-Castroviejo

66. Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway
Ignacio Pascual-Castroviejo, Martino Ruggieri

67. Anderson-Fabry Disease
Anna-Christine Hauser

68. Cerebrotendinous Xanthomatosis
Antonio Federico, Gian Nicola Gallus, Maria Teresa Dotti

69. Giant Axonal Neuropathy
Claudio Bruno, Carlo Minetti

70. Lesch-Nyhan Syndrome
Ignacio Pascual-Castroviejo, Martino Ruggieri

71. The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders
Enrico Bertini, May El Hachem, Carlo Dionisi-Vici

72. Skin Involvement as a Clinical Marker of Neuromuscular Disorders
Raffaele Falsaperla

Keywords: Medicine & Public Health, Neurology, Pediatrics, Human Genetics, Neurosurgery, Orthopedics, Dermatology

Author(s)
 
 
Publisher
Springer
Publication year
2008
Language
en
Edition
1
Page amount
1091 pages
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783211695005

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