Cholelithiasis bei einem bisher nicht beschriebenen Fall von Porphyria erythropoetica congenita*

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Abstract
The signs of congenital erythropoietic porphyria had their onset at the age of 2 in a male patient born in 1934: there were blisters and scars after exposure to sunlight, red urine, marked cutaneous pigmentation, acral multilation, lanugo and erytordontia. Porphyrin levels in red blood cells and urine confirmed the diagnosis. Splenectomy was performed in 1966 for hypersplenism and hemolysis. No transfusion was necessary since and the hemolysis has completely disappeared, but signs of ineffective erythropoiesis have continued. Cholecystectomy with choledochal revision was performed because of right upper abdominal colics, fever and biliary stasis in 1977: 5 partly pigmented, partly mixed gall stones were removed. The latter had a black, friable center with high porphyrin content and a cholesterol coating. As in other chronic hemolyses, pigmented gallstones may also occur in congenital erythropoetic porphyria.