Congenital erythropoietic uroporphyria (Günther's disease) presenting in a middle aged man

Abstract

1. 1. The third case of erythropoietic uroporphyria of Günther in an adult is reported. A bullous rash and hepatosplenomegaly suggested a diagnosis of symptomatic porphyria cutanea tarda. 2. 2. Evidence of excessive porphyrin metabolism was found in the red cells and their precursors and detailed chemical analyses of plasma, red cell, urinary and faecal porphyrins gave results similar to those for congenital porphyria. 3. 3. The late presentation, as suggested by Pain (1975), may represent the heterozygous state and this is discussed.