[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].

Ugeskrift for laeger

PubMedID: 18252165

Dam C, Bathum L, Sommerlund M, Bygum A. [Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms]. Ugeskr Laeg. 2008;170(5):352.
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder, resulting from a deficiency of a specific enzyme, ferrochelatase, in the haem biosynthesis pathway. Early and late skin symptoms in EPP are demonstrated by three case stories. Diagnosis depends on characteristic skin symptoms and raised level of protoporphyrin in erythrocytes. The cases illustrate the aspect of inheritance, prophylaxis and recommended follow-up in EPP.