Neurocutaneous Disorders (eBook, PDF)

Phakomatoses & Hamartoneoplastic Syndromes
Redaktion: Ruggieri, Martino; Di Rocco, Concezio; Pascual Castroviejo, Ignacio

• Format: PDF

Produktbeschreibung

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.

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Produktdetails

• Verlag: Springer Vienna
• Seitenzahl: 1070
• Erscheinungstermin: 1. Oktober 2009
• Englisch
• ISBN-13: 9783211695005
• Artikelnr.: 37358663

Autorenporträt

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")

Inhaltsangabe

Embryology of Neurocutaneous Syndromes.- Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome.- Neurofibromatosis type 1 & Related Disorders.- Neurofibromatosis type 2 and related disorders.- The Tuberous Sclerosis Complex.- Von Hippel-Lindau Disease.- Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena).- Klippel-Trenaunay Syndrome.- Parkes Weber Syndrome.- Sturge-Weber Syndrome.- Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia).- Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation).- Blue Rubber Bleb Nevus Syndrome (Brbns).- Wyburn-Mason Syndrome.- Maffucci Syndrome.- Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism).- Phylloid Hypomelanosis.- Incontinentia Pigmenti.- Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS).- Leopard Syndrome.- Nevus of OTA.- Phacomatosis Pigmentokeratotica.- Phakomatosis Pigmentovascularis.- Speckled Lentiginous Nevus Syndrome.- Cutis Tricolor (Ruggieri-Happle Syndrome).- Neurocutaneous Melanosis.- Genetics of Pten Hamartoma Tumor Syndrome (PHTS).- Lhermitte-Duclos and Cowden Disease Complex.- Bannayan-Riley-Ruvalcaba Syndrome.- Encephalocraniocutaneous Lipomatosis (Haberland Syndrome).- Proteus Syndrome.- Epidermal Nevus Syndromes.- Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome).- Inflammatory Linear Verrucous Epidermal Nevus (Ilven).- Nevus Comedonicus Syndrome.- Becker's Nevus Syndrome (Pigmentary Hairy Epidermal Nevus).- Child Syndrome.- Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2).- SjÖgren-Larsson Syndrome.- Kid Syndrome (Keratitis-Ichthyosis-Deafness).- Papillon-Lefèvre Syndrome(PLS).- Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency).- Darier's Disease.- Dyskeratosis Congenita.- Nevoid Basal Cell Carcinoma (Gorlin) Syndrome.- Multiple Endocrine Neoplasia Type 2B.- Turcot Syndrome.- Degos' Disease (Malignant Atrophic Papulosis).- Ataxia-Telangiectasia.- Nijmegen Breakage Syndrome.- Xeroderma Pigmentosum.- Cockayne Syndrome.- Trichothiodystrophy.- Progeria and Progeroid Syndromes (Premature Ageing Disorders).- Focal Dermal Hypoplasia Syndrome (Goltz Syndrome).- Ehlers-Danlos Syndromes.- Lipoid proteinosis.- Progressive facial hemiatrophy (parry-romberg syndrome).- Linear scleroderma (morphoea) "en coup de sabre".- Unilateral Somatic and Intracranial Hypoplasia.- Oculocerebrocutaneous Syndrome (Delleman Syndrome).- Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome).- Macrodactyly-Lipofibromatous Hamartoma of Nerves.- Chime Syndrome (Zunich Syndrome).- Hypohidrotic Ectodermal Dysplasia (HED).- Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway.- Anderson-Fabry Disease.- Cerebrotendinous Xanthomatosis.- Giant Axonal Neuropathy.- Lesch-Nyhan Syndrome.- The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders.- Skin Involvement as a Clinical Marker of Neuromuscular Disorders.

Rezensionen

" ... 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