title: The rare phakomatoses.
abstract: This article outlines the clinical, central nervous system, and neuropathologic features,pathogenesis, genetics, molecular biology, and neuroimaging characteristics of the rare vascular phakomatoses, melanophakomatoses, and organoid phakomatoses.
authors.affiliation: Department of Radiology, MIA Group Limited Box Hill Hospital, Melbourne, Australia.
authors.forename: Simon
authors.initials: S
authors.lastname: Edelstein
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Naidich
authors.forename: T Hans
authors.initials: TH
authors.lastname: Newton
mesh_terms: D001921:Brain / Q000473:pathology; D005145:Face / Q000473:pathology; D006801:Humans; D020752:Neurocutaneous Syndromes / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014652:Vascular Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*