[Erythropoietic protoporphyria].
The investigation and follow-up of three cases of EPP led us to reevaluate the signs and symptoms of the disease, the usefulness of early skin biopsies and protoporphyrin and ferrochelatase determinations. A review of the literature brought forth the salient features of this inborn error of porphyrin metabolism and stressed the value of treatment with beta-carotene and canthaxantine but also the risk of the so-called "gold dust" retinopathy.
D000328:Adult; D016644:Canthaxanthin; D002338:Carotenoids / Q000031:analogs & derivatives / Q000627:therapeutic use; D002648:Child; D004912:Erythrocytes; D005260:Female; D006801:Humans; D008297:Male; D011164:Porphyrias / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D011166:Porphyrins; D011524:Protoporphyrins; D012867:Skin / Q000648:ultrastructure; D012871:Skin Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology
D011166:Porphyrins; D011524:Protoporphyrins; D002338:Carotenoids; D016644:Canthaxanthin
Protoporphyrie érythropoïétique.