Sections View Full Chapter Figures Tables Videos Full Chapter Figures Tables Videos Supplementary Content ++ See Table H-4. ++Table Graphic Jump LocationH-4 Hereditary Neurocutaneous Angiomatoses: An OverviewView Table||Download (.pdf)H-4 Hereditary Neurocutaneous Angiomatoses: An OverviewSyndromeFeaturesLouis-Bar Syndrome (ataxia-telangiectasia)Progressive ataxia with degeneration of Purkinje cells, loss of myelinated fibers in peripheral nerves, multiple cutaneous telangiectasia, specific immunologic abnormalities, hypersensitivity to irradiation. Ataxia-telangiectasia cells divide before DNA repair can occur, leading to an increased number of observed chromosomal breaksSturge-Weber Syndrome (encephalotrigeminal angiomatosis) Unilateral facial angioma in the dermatomes of the first or second division of the trigeminal nerve (V), ipsilateral leptomeningeal venous angiomatosis, and cortical atrophy with calcifications, cystic choroid plexus; somatic mutation rather than germ cell mutation (sporadic rather than inherited)Klippel-Trenaunay Syndrome (spinal cutaneous angiomatosis) Spinal variant of Sturge-Weber syndrome; extensive skin hemangiomas following dermatomal pattern with associated hemangiomas of the spinal cordHereditary Telangiectasia (Rendu-Osler-Weber syndrome) Multiple red or purple angiomas, arteriovenous malformations of the skin, viscera, and central nervous system that may cause intracranial bleeding with seizures or localized dysfunction; autosomal dominantFabry Disease (angiokeratoma, corporis diffusum) Acroparesthesias in the extremities with acute episodes (Fabry crises), development of angiokeratoma, heat intolerance, progressive accumulation of glycosphingolipids in tissues resulting in progressive degeneration and major organ failure; X-linked disease caused by a deficiency of the lysosomal enzyme α-galactosidaseWyburn Mason Syndrome Arteriovenous malformations in the CNS and retina; congenital but nonhereditary disorder, without sex or race predilection Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth