000 05932nam a22005535i 4500
001 978-3-211-69500-5
003 DE-He213
005 20161121230845.0
007 cr nn 008mamaa
008 100301s2008 au | s |||| 0|eng d
020 _a9783211695005
_9978-3-211-69500-5
024 7 _a10.1007/978-3-211-69500-5
_2doi
050 4 _aRC346-429.2
072 7 _aMJN
_2bicssc
072 7 _aMED056000
_2bisacsh
082 0 4 _a616.8
_223
245 1 0 _aNeurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes
_h[electronic resource] /
_cedited by Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco.
264 1 _aVienna :
_bSpringer Vienna,
_c2008.
300 _aXXI, 1070 p. 457 illus., 234 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aEmbryology 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.
520 _aNeurocutaneous 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.
650 0 _aMedicine.
650 0 _aHuman genetics.
650 0 _aDermatology.
650 0 _aNeurology.
650 0 _aNeurosurgery.
650 0 _aOrthopedics.
650 0 _aPediatrics.
650 1 4 _aMedicine & Public Health.
650 2 4 _aNeurology.
650 2 4 _aHuman Genetics.
650 2 4 _aPediatrics.
650 2 4 _aNeurosurgery.
650 2 4 _aOrthopedics.
650 2 4 _aDermatology.
700 1 _aRuggieri, Martino.
_eeditor.
700 1 _aPascual-Castroviejo, Ignacio.
_eeditor.
700 1 _aRocco, Concezio Di.
_eeditor.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9783211213964
856 4 0 _uhttp://dx.doi.org/10.1007/978-3-211-69500-5
912 _aZDB-2-SME
950 _aMedicine (Springer-11650)
999 _c504982
_d504982