title: Familial Sneddon's syndrome.
abstract: We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.
authors.affiliation: Department of Neurology, Hadassah University Hospital, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Lossos
authors.forename: T
authors.initials: T
authors.lastname: Ben-Hur
authors.forename: Z
authors.initials: Z
authors.lastname: Ben-Nariah
authors.forename: C
authors.initials: C
authors.lastname: Enk
authors.forename: M
authors.initials: M
authors.lastname: Gomori
authors.forename: D
authors.initials: D
authors.lastname: Soffer
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002545:Brain Ischemia / Q000175:diagnosis; D002544:Cerebral Infarction / Q000175:diagnosis; D002561:Cerebrovascular Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000473:pathology; D017445:Skin Diseases, Vascular / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome