Factor VII deficiency and a copper metabolism disorder in a patient with Klippel-Trenaunay syndrome.
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.
Mueller
Nicolas J
NJ
Department of Internal Medicine, University Hospital of Zurich, Switzerland.
Schiller
Peter
P
Shimizu
Norikazu
N
Flury
Renata
R
Aschwanden
Markus
M
Widmer
Urs
U
Enzler
Thonas
T
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*
D003300:Copper