About this product

Product Identifiers

PublisherSpringer

ISBN-103709119073

ISBN-139783709119075

eBay Product ID (ePID)240497944

Product Key Features

Number of PagesXxi, 1070 Pages

Publication NameNeurocutaneous Disorders : Phakomatoses and Hamartoneoplastic Syndromes

LanguageEnglish

SubjectNeurology, Pediatrics, Genetics

Publication Year2016

TypeTextbook

Subject AreaMedical

AuthorIgnacio Pascual Castroviejo

FormatTrade Paperback

Dimensions

Item Weight132 Oz

Item Length11 in

Item Width8.3 in

Additional Product Features

Reviews" ... 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

Dewey Edition22

Number of Volumes1 vol.

IllustratedYes

Dewey Decimal616.8

Table Of ContentForeword 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

SynopsisThe 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., 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., The book provides an authoritative source of knowledge about these problematic disorders. Aimed primarily at clinicians and graduate researchers, this essential text bridges the gap between clinical recognition and the new molecular medicine. The comprehensive coverage is essential reference material for clinicians as some of the more common entities have variable forms of expression that can confuse diagnoses, while for the rare conditions it is difficult to find descriptions in the literature. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the very same 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., The book provides an authoritative source of knowledge about these problematic disorders. Aimed primarily at clinicians and graduate researchers, this essential text bridges the gap between clinical recognition and the new molecular medicine. Many relevant diseases are described here for the first time.

LC Classification NumberRC346-429.2