Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes

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