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Title Neurocutaneous disorders : phakomatoses and hamartoneoplastic syndromes / Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco, (eds.)
Published Wien ; New York : Springer, [2008]
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Description 1 online resource (xxi, 1070 pages) : illustrations, portraits
Contents Child syndrome -- Chondrodysplasia punctata (Cdp) Conradi-Hunermann-Happle type (Cdpx2) -- Sjogren-Larsson syndrome -- Kid syndrome (keratitis-ichthyosis-deafness) -- Papillon-Lefevre 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 aging 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
Embryology of neurocutaneous syndromes -- Vascular birthmarks of infancy: Phace association (Pascual-Castroviejo type II syndrome) and Cobb syndrome -- Neurofibromatosis type I and 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-Merritt phenomena) -- Klippel-Trenaunay syndrome -- Parkes Weber syndrome -- Sturge-Weber syndrome -- Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia) -- Macrocephaly-cutis marmorata telangiectatica congenital (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)
Summary A practical, comprehensive guide to the recognition, investigation and management of more than 60 recognized phakomatoses (neurocutaneous disorders)
Bibliography Includes bibliographical references and index
Notes Print version record
Subject Neurocutaneous disorders.
Neurocutaneous Syndromes.
Neoplastic Syndromes, Hereditary.
Form Electronic book
Author Di Rocco, C. (Concezio)
Pascual Castroviejo, I. (Ignacio)
Ruggieri, Martino.
LC no. 2006937726
ISBN 3211695001
(alk. paper)
(alk. paper)