Core Papers

Erythropoietic Protoporphyria
Erythropoietic Protoporphyria

Erythropoietic Protoporphyria

Elma D. Baron and Min Deng

Published:  10 October 2008



Erythropoietic protoporphyria is a rare but important disease to recognize in patients with a complaint of photosensitivity. The defect in the enzyme ferrochelatase, part of the heme biosynthesis pathway, defines this disorder and distinguishes it from other types of porphyrias. This condition should be suspected in young patients complaining of painful lesions upon sun exposure. Management remains challenging and monitoring for possible systemic sequelae such as liver damage is important.

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