Neurocutaneous Disorders

Dr. Martino Ruggieri, Institute of Neurological Science (ISN), National Research Council (CNR), CataniaProf. Dr. Ignacio Pascual-Castroviejo, Professor of Paediatric Neurology, Madrid Prof. Dr. Concezio Di Rocco, Instituto di Neurochirurgica, Univ. Cattolica del Sacro Cuore, Roma (Editor-in-Chief "Child's Nervous System")

• Embryology of Neurocutaneous Syndromes.- Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome.- Neurofibromatosis type 1 & 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-Merrit Phenomena).- Klippel-Trenaunay Syndrome.- Parkes Weber Syndrome.- Sturge-Weber Syndrome.- Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia).- Macrocephaly-Cutis Marmorata Telangiectatica Congenita (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).- SjÖgren-Larsson Syndrome.- Kid Syndrome (Keratitis-Ichthyosis-Deafness).- Papillon-Lefèvre 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 Ageing 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.