title: Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome.
abstract: A case of angiokeratoma corporis diffusum (ACD) involving the skin of a 26-year-old patient with Turner's syndrome presenting with normal physical and mental development is reported. The unusual nature of this association confirms the theory that ACD presenting with skin lesions alone is a rare but specific clinical entity which differs from the hereditary sphingolipidoses like Fabry's disease.
authors.affiliation: Istituto di Clinica Dermatologica I e Dermatologia Pediatrica, University of Milan.
authors.forename: G
authors.initials: G
authors.lastname: Gasparini
authors.forename: G
authors.initials: G
authors.lastname: Sarchi
authors.forename: S
authors.initials: S
authors.lastname: Cavicchini
authors.forename: B
authors.initials: B
authors.lastname: Bertagnolio
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D014424:Turner Syndrome / Q000150:complications*