Ruggieri, Martino
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes
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
Avainsanat: Medicine & Public Health, Neurology, Pediatrics, Human Genetics, Neurosurgery, Orthopedics, Dermatology
- Tekijä(t)
- Ruggieri, Martino
- Pascual-Castroviejo, Ignacio
- Rocco, Concezio
- Julkaisija
- Springer
- Julkaisuvuosi
- 2008
- Kieli
- en
- Painos
- 1
- Sivumäärä
- 1091 sivua
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9783211695005