Front cover image for Neurocutaneous disorders : phakomatoses and hamartoneoplastic syndromes

Neurocutaneous disorders : phakomatoses and hamartoneoplastic syndromes

A practical, comprehensive guide to the recognition, investigation and management of more than 60 recognized phakomatoses (neurocutaneous disorders)
eBook, English, ©2008
Springer, Wien, ©2008
1 online resource (xxi, 1070 pages) : illustrations, portraits
9783211695005, 3211695001
489423497
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). 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
English