Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria)

Abstract

Abstract: An 8‐year‐old Caucasian girl had recurrent swelling, itching, burning, and painful sensations in her face and hands since 12 months of age. This reaction occurred after sunlight exposure and to a lesser extent with heat and wind. On physical examination the patient demonstrated mild focal thickening of the skin of the nose and upper lip and dorsa of the hands and toes. Laboratory studies were notable for a high free erythrocyte protoporphyrin level, which is diagnostic for erythropoietic protoporphyria (Erythropoietic Protoporphyria Research and Educational Fund. Available at http://www.brighamandwomens.org/eppref/patient/eppinfo.aspx.). Erythropoietic protoporphyria is a rare genetic disorder of porphyrin metabolism caused by impaired activity of ferrochelatase. The mainstay of therapy is photosensitivity reduction through the use of reflectant sunscreens and beta‐carotene administration.