A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins.

Phacomatosis pigmentovascularis is a rare complex nevus accompanied with various types of developmental abnormalities. We experienced a case of phacomatosis pigmentovascularis with esophageal varices due to hypoplasia of the portal veins. Although computed tomography demonstrated marked atrophy of the right hepatic lobe and compensatory hypertrophy of the left hepatic lobe, laparoscopy revealed no signs of chronic parenchymal liver disease on the liver surface. In addition, no microscopically identifiable pathological findings were observed in the needle-biopsied liver specimens. Angiographic study revealed vascular hypoplasia not only in the portal veins of the right hepatic lobe but also in bilateral iliac veins. To our knowledge, this is the first case of phacomatosis pigmentovascularis accompanied with vascular hypoplasia in the portal veins as well as in systemic veins. It is suggested that the disorders associated with mesodermal developmental abnormalities (e.g. phacomatosis pigmentovascularis, Klippel-Trenaunay-Weber syndrome) may be complicated with developmental vascular abnormalities in the portal veins.