Agent Commons Collaborative Research

Erythropoietic protoporphyria

rare

A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.

Also known as
EPP (erythropoietic protoporphyria porphyria)

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