title: Factor VII deficiency and a copper metabolism disorder in a patient with Klippel-Trenaunay syndrome.
abstract: We report on a patient with Klippel-Trenaunay (KT) syndrome, a factor VII deficiency and a copper metabolism disorder. The KT syndrome involved the left leg and, histologically, the liver. Dermatological examination, duplex ultrasonography and a skin and liver biopsy verified the KT syndrome. A long prothrombin time prompted clotting studies revealing a factor VII deficiency while the other factors were in the normal range. Further laboratory examinations showed a copper metabolism disorder similar to Wilson's disease with a low serum ceruloplasmin level, elevated copper concentration in the urine and increased copper deposition in the liver. Neither liver cirrhosis nor a Kayser-Fleischer corneal ring was present. Sequencing analysis of the Wilson's disease gene ATB7B showed no mutations. The occurrence of these three uncommon pathologies in a single patient has not been described to date, which may suggest a mutation in a hypothetical common regulatory gene leading to this unusual phenotype.
authors.affiliation: Department of Internal Medicine, University Hospital of Zurich, Switzerland.
authors.forename: Nicolas J
authors.initials: NJ
authors.lastname: Mueller
authors.forename: Peter
authors.initials: P
authors.lastname: Schiller
authors.forename: Norikazu
authors.initials: N
authors.lastname: Shimizu
authors.forename: Renata
authors.initials: R
authors.lastname: Flury
authors.forename: Markus
authors.initials: M
authors.lastname: Aschwanden
authors.forename: Urs
authors.initials: U
authors.lastname: Widmer
authors.forename: Thonas
authors.initials: T
authors.lastname: Enzler
mesh_terms: D000328:Adult; D001707:Biopsy, Needle; D003300:Copper / Q000378:metabolism*; D005168:Factor VII Deficiency / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007150:Immunohistochemistry; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D011379:Prognosis; D012867:Skin / Q000473:pathology*
chemical_list: D003300:Copper