Erythropoietic Protoporphyria

Excerpt

Erythropoietic protoporphyria (EPP) is an inherited condition resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful, non-blistering photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight. It is seasonal in nature with symptoms principally occurring in the spring and summer season.

EPP is a lifelong disease, and repeated phototoxic reactions eventually lead to thickening of the skin and wax-like scarring on the face. In a small number of patients, the accumulation of protoporphyrins in the liver leads to cirrhosis and liver failure. Onset in adulthood is rare, but an acquired form has been identified, in which clones of cells with mutated ferrochelatase expand in the setting of the myelodysplastic or myeloproliferative syndrome.