A 20-month-old boy had a history of jaundice which began two days after birth. The jaundice decreased and increased at times during the succeeding months up to the present time. Pruritus appeared at 11 months and remained. Xanthomas appeared around the first birthday, and gradually developed over almost the entire body. An exploratory laparotomy, performed at 22 months of age, revealed a patent extrahepatic biliary system, except for the hepatic ducts which were narrow and cord-like. Microscopic study of the liver showed absence of the portal bile ducts. No significant skeletal changes were found. After the exploration, the serum cholesterol levels remained at more than 1,000 mg/100 ml, and fresh xanthomas appeared in the postoperative scar and on the lips.
Ito J, Sugai T, Saito T. Atresia of the Intrahepatic Bile Ducts With Xanthomatosis. Arch Dermatol. 1967;96(1):53-58. doi:10.1001/archderm.1967.01610010059008