Erythropoietic Protoporphyria

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Abstract
A genetic and clinical study was conducted on nine families. There were 16 clinically affected individuals and 43 carriers. A predominance of males in our study and from the literature was noted. Two families showed transmission of the trait from a carrier to an affected individual to a carrier through several generations. Carriers were detected by increased fluorescing erythrocytes because fecal and erythrocyte protoporphyrin levels are often normal. Erythrocytic protoporphyrins are probably not important for photosensitivity, though protoporphyrins from the liver may well be. The disorder should be called erythrohepatic protoporphyria in order to emphasize the complete metabolic defect. The disorder is transmitted as an autosomal dominant with many carriers and few clinically involved individuals.