Protoporfiria eritropoyética: Estudio de cuatro casos y revisión de la literatura

Abstract

Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase. It is a rare disease, characterized clinically by photosensitivity. Otherwise, the patients often refer only itching and swelling in photoexposed areas, without visible lesions. This often hampers the diagnosis of EPP. We describe four cases of EPP that we saw in our Photobiology Department and review the most important features of the disease.