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Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes de Martino Ruggieri

Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes

Editat de Martino Ruggieri, Ignacio Pascual Castroviejo, Concezio Di Rocco
en Limba Engleză Hardback – 22 sep 2008
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
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Specificații

ISBN-13: 9783211213964
ISBN-10: 3211213961
Pagini: 980
Ilustrații: XXI, 1070 p.
Dimensiuni: 210 x 277 x 69 mm
Greutate: 2.86 kg
Ediția:2008
Editura: SPRINGER VIENNA
Colecția Springer
Locul publicării:Vienna, Austria

Public țintă

Academic/professional/technical: Research and professional

Descriere

Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.

Cuprins

Foreword Introduction Embryology of neurocutaneous disorders H. Sarnat, L. Sarnat-Flores Genetics of the phakomatoses C. Romano Vascular birthmarks of infancy: 'Pascual-Castroviejo II syndromes' I. Pascual-Castroviejo Neurofibromatosis type 1 (NF1) & related forms M. Ruggieri, M. Upadhyaya, M. Giovannini, I. Pascual-Castroviejo Neurofibromatosis type 2 (NF2) & related forms S. Plotkin, L. Papi, M. Ruggieri Schwannomatosis S. Plotkin Tuberous sclerosis (TS) S. Jozwiak), N. Migone, M. Ruggieri Von Hippel-Lindau disease (VHL) ST. Jarrell & RR. Lonser Klippel-Trenaunay, Parkes-Weber and Sturge-Weber syndromes: variations on a theme? M. Ruggieri, I. Pascual-Castroviejo Klippel-Trenaunay syndrome M. Ruggieri, O. Konez Parkes Weber syndrome M. Ruggieri, O. Konez, Sturge-Weber syndrome I. Pascual-Castroviejo, M. Ruggieri Hypomelanosis of Ito & related disorders (Pigmentary mosaicism) I. Pascual-Castroviejo, M. Ruggieri Incontinentia pigmenti I. Pascual-Castroviejo Phylloid hypomelanosis C. Schepis Wyburn-Mason syndrome M. Ruggieri, C. Di Rocco Osler-Weber-Rendu syndrome (hereditary haemorrhagic telangietcasia) Hereditary neurocutaneous angiomatosis Familial cavernomas, angioma of brain, retina and skin Degos disease C. Schepis The 'epidermal nevus syndromes JL. Sugarman Schimmelpenning-Feuerstein-Mims Solomon syndrome [Epidermal (sebaceous) nevus syndrome] I. Pascual-Castroviejo CHILD syndrome R. Ruiz-Maldonado, et al. Becker syndrome (pigmented hairy epidermal nevus syndrome) M.Ruggieri, I. Pascual-Castroviejo Nevus comedonicus JL. Sugarman Phakomatosis pigmentokeratotica M. del C. Boente, et al. Phakomatosis pigmentovascularis R.Ruiz-Maldonado et al. Phakomatosis vasculo-vascularis (with Dyke-Davidoff-Masson anomaly) M. Ruggieri & P. Milone Cutis tricolor (Ruggieri-Happle syndrome) M. Ruggieri), I Kennerknecht, P. Iannetti, M. Roggini, R. Happle Speckled lentiginous nevi syndrome (Happle syndrome) M. Ruggieri LEOPARD sindrome S. Jozwiak Cutis Marmorata Telangiectatica Congenita P. Lapunzina, J. Clayton-Smith Neuromelanosis cutanea S. Jozwiak Blue Rubber Bleb Nevus syndrome M. del C. Boent, et al. Nevus of Ota I. Pascual-Castroviejo Genetics of PTEN-hamartomatous syndrome C. Romano Cowden/Lhermitte-Duclos syndrome D. Nowak Bannayan-Riley-Ruvalcaba sindrome C. Romano Proteus & Elattoproteus syndromes M.Ruggieri, I. Pascual-Castroviejo Encephalocraniocutaneous lipomatosis (ECCL) S. Jozwiak, I. Pascual-Castroviejo Focal dermal hypoplasia I. Pascual-Castroviejo Progressive facial hemiatrophy I. Pascual-Castroviejo Unilateral facial and intracranial hypoplasia

Recenzii

" ... This book is a superb international accomplishment, and a significant asset for clinicians worldwide ... With this encyclopaedic text in hand, one feels a refreshing sense of confidence in assessing patients with neurocutaneous disorders." Robert Schwartz, The Lancet Neurology, Vol 8 April 2009

Notă biografică

Dr. Martino Ruggieri, Institute of Neurological Science (ISN), National Research Council (CNR), Catania
Prof. Dr. Ignacio Pascual-Castroviejo, Professor of Paediatric Neurology, Madrid
Prof. Dr. Concezio Di Rocco, Instituto di Neurochirurgica, Univ. Cattolica del Sacro Cuore, Roma (Editor-in-Chief "Child's Nervous System")

Caracteristici

Written by internationally renowned clinicians and researchers
Many recently discovered diseases described for the first time
Includes supplementary material: sn.pub/extras