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

The signs of congenital erythropoietic porphyria (Günther) had their onset at the age of two in a male patient born in 1934: there were blisters and scars after exposure to sunlight, red urine, marked cutaneous pigmentation, acral mutilation, lanugo and erythrodontia. Porphyrin levels in red blood cells and urine confirmed the diagnosis. Splenectomy was performed in 1966 for hypersplenism and haemolysis. No transfusion has been necessary since and the haemolysis 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: five partly pigmented, partly mixed gall-stones were removed. The latter had a black, friable centre with high porphyrin content and a cholesterol coating. Thus, as in other chronic haemolyses, pigmented gall-stones may also occur in congenital erythropoetic porphyria.