Erythropoietic Protoporphyria

**Semantic type:** Disease or Syndrome

**Definition:** A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. 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.

**Synonyms:** - EPP - Protoporphyria, Erythropoietic