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Martino Ruggieri, Ignacio Pascual-Castroviejo and Concezio Di Rocco
I-XXI
Front matter
1-17
Embryology of Neurocutaneous Syndromes
19-49
Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome
51-151
Neurofibromatosis type 1 & Related Disorders
153-180
Neurofibromatosis type 2 and related disorders
181-227
The Tuberous Sclerosis Complex
229-248
Von Hippel-Lindau Disease
249-255
Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena)
257-275
Klippel-Trenaunay Syndrome
277-285
Parkes Weber Syndrome
287-309
Sturge-Weber Syndrome
311-321
Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia)
323-332
Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)
333-344
Blue Rubber Bleb Nevus Syndrome (Brbns)
345-352
Wyburn-Mason Syndrome
353-362
Maffucci Syndrome
363-385
Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism)
386-390
Phylloid Hypomelanosis
391-406
Incontinentia Pigmenti
407-426
Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS)
427-434
Leopard Syndrome
435-439
Nevus of OTA
441-447
Phacomatosis Pigmentokeratotica
449-454
Phakomatosis Pigmentovascularis
455-459
Speckled Lentiginous Nevus Syndrome
461-471
Cutis Tricolor (Ruggieri-Happle Syndrome)
473-481
Neurocutaneous Melanosis
483-489
Genetics of Pten Hamartoma Tumor Syndrome (PHTS)
491-509
Lhermitte-Duclos and Cowden Disease Complex
511-515
Bannayan-Riley-Ruvalcaba Syndrome
517-525
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)
527-546
Proteus Syndrome
547-557
Epidermal Nevus Syndromes
559-573
Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome)
575-580
Inflammatory Linear Verrucous Epidermal Nevus (Ilven)
581-587
Nevus Comedonicus Syndrome
589-594
Becker’s Nevus Syndrome (Pigmentary Hairy Epidermal Nevus)
595-601
Child Syndrome
603-613
Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2)
615-624
SjÖgren-Larsson Syndrome
625-632
Kid Syndrome (Keratitis-Ichthyosis-Deafness)
633-642
Papillon-Lefèvre Syndrome (PLS)
643-647
Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency)
649-659
Darier’s Disease
661-668
Dyskeratosis Congenita
669-694
Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
695-701
Multiple Endocrine Neoplasia Type 2B
703-723
Turcot Syndrome
725-730
Degos’ Disease (Malignant Atrophic Papulosis)
731-758
Ataxia-Telangiectasia
759-769
Nijmegen Breakage Syndrome
771-792
Xeroderma Pigmentosum
793-819
Cockayne Syndrome
821-845
Trichothiodystrophy
847-878
Progeria and Progeroid Syndromes (Premature Ageing Disorders)
879-886
Focal Dermal Hypoplasia Syndrome (Goltz Syndrome)
887-906
Ehlers-Danlos Syndromes
907-914
Lipoid proteinosis
915-919
Progressive facial hemiatrophy (parry-romberg syndrome)
921-926
Linear scleroderma (morphoea) “en coup de sabre”
927-929
Unilateral Somatic and Intracranial Hypoplasia
931-934
Oculocerebrocutaneous Syndrome (Delleman Syndrome)
935-940
Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome)
941-947
Macrodactyly-Lipofibromatous Hamartoma of Nerves
949-955
Chime Syndrome (Zunich Syndrome)
957-965
Hypohidrotic Ectodermal Dysplasia (HED)
967-986
Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway
987-997
Anderson-Fabry Disease
999-1009
Cerebrotendinous Xanthomatosis
1011-1015
Giant Axonal Neuropathy
1017-1022
Lesch-Nyhan Syndrome
1023-1042
The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders
1043-1055
Skin Involvement as a Clinical Marker of Neuromuscular Disorders
1057-1070
Back matter
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