| Description |
1 online resource (xxi, 1070 pages) : illustrations, portraits |
| Contents |
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) |
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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 |
| 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 |
English |
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Print version record |
| Subject |
Neurocutaneous disorders.
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Hamartoma.
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Neurocutaneous Syndromes
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Neurodermatitis
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Hamartoma
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Hemangioma
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Neoplastic Syndromes, Hereditary
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Hamartoma
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Neurocutaneous disorders
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| Form |
Electronic book
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| Author |
Ruggieri, Martino
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Pascual Castroviejo, I. (Ignacio)
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Di Rocco, C. (Concezio)
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| ISBN |
9783211695005 |
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3211695001 |
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