Paralytic Ileus and Liver Failuren Unusual Presentation of Advanced Erythropoietic Protoporphyria Simone Negrini Gabriele Zoppoli Maurizio Setti Maria Domenica Cappellini Francesco Indiveri

摘要

Erythropoietic protoporphyria (EPP) is an uncommon genetic disorder of heme metabolism caused by the deficiency of mitochondrial ferrochelatase, an enzyme that catalyzes the chelation of iron to protoporphyrin (PP) [1-3]. Skin involvement is the most typical feature of this disease. It is characterized by light-sensitive dermatitis (usually developing during childhood). Erosions on the face, healing with scars, or waxy thickening of the skin of the nose and knuckles may ensue [4-6]