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Erythropoietic protoporphyria
rareA 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.
- Identifiers
- MONDO:0001676 Orphanet:659681
- Also known as
- EPP (erythropoietic protoporphyria porphyria)
Subtypes
Disease Rare Not rare Subtypes
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