Neurocutaneous Disorders - Ruggieri Martino (Curatore); Pascual Castroviejo Ignacio (Curatore); Di Rocco Concezio (Curatore) | Libro Springer 09/2008 - HOEPLI.it


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ruggieri martino (curatore); pascual castroviejo ignacio (curatore); di rocco concezio (curatore) - neurocutaneous disorders

Neurocutaneous Disorders Phakomatoses & Hamartoneoplastic Syndromes

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Dettagli

Genere:Libro
Lingua: Inglese
Editore:

Springer

Pubblicazione: 09/2008
Edizione: 2008





Sommario

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




Trama

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.




Autore

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")








Altre Informazioni

ISBN:

9783211213964

Condizione: Nuovo
Dimensioni: 277 x 210 mm Ø 2862 gr
Formato: Copertina rigida
Illustration Notes:300 illustrations, 150 in colour
Pagine Arabe: 1070
Pagine Romane: xxi






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