Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes

ISBN-13: 9783709119075 / Angielski / Miękka / 2016 / 1070 str.

Martino Ruggieri; Ignacio Pascual Castroviejo; Concezio Di Rocco

Opis

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.

Recenzje

" ... 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

Spis treści

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

O autorze

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")