Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.

Erythropoietic protoporphyria (EPP) is caused by a defect in ferrochelatase, leading to the accumulation of protoporphyrin predominantly in erythrocytes and hepatocytes, and resulting in skin photosensitivity upon leaching of blood protoporphyrin into the skin. Some patients also develop severe liver damage. Because the respective contributions of hepatic and erythrocytic protoporphyrin to the pathophysiology of EPP remain unclear, we investigated this question using the murine model of EPP.