Erythropoietic protoporphyria

Definition

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) — per MONDO

Also identified as

• DOID 13270 per MONDO
• MESH D046351 per MONDO
• Orphanet 659681 per MONDO
• SCTID 51022005 per MONDO
• UMLS C0162568 per MONDO

Drugs indicated