2001 Volume 43 Issue 2 Pages 111-115
Erythropoietic protoporphyria (EPP) is an autosomal dominant disorder due to the decrease of ferrochelatase activity in the terminal step of heme synthesis. The relationship between ferrochelatase activity and clinical signs including liver dysfunction are not completely clarified. We report an infantile case of EPP who showed a decreased mRNA level of ferrochelatase. A 1-year-old boy was seen with scaly erythema on the face and small reddish papules on the back of fingers and hands. Erythrocytes showed red fluorescence. rotoporphyrin and zinc-protoporphyrin in erythrocytes were high, while coproporphyrin in rythrocytes was normal. Ferrochelatase mRNA expression demonstrated a marked decrease, 43% of normal controls, in peripheral blood lymphocytes. We should observe the change of clinical signs in relation with ferrochelatase activity in this patient in the future.
