Photosensitivity papules--a cutaneous sign of systemic disease: erythropoietic protoporphyria.
Erythropoietic protoporphyria is an unusual autosomal dominant syndrome characterized by increased deposits of protoporphyrin in erythrocytes, liver, feces, and skin. Symptomatic chronic cutaneous papules in sun-exposed areas, cholelithiasis, cirrhosis, hepatic failure, and anemia are manifestations of this systemic disorder. Treatment of cutaneous symptoms is with oral beta-carotene, but there is no effective control for internal manifestations.
D000328:Adult; D002338:Carotenoids / Q000627:therapeutic use; D004912:Erythrocytes / Q000378:metabolism / Q000473:pathology; D004920:Erythropoiesis; D006801:Humans; D008297:Male; D011164:Porphyrias / Q000097:blood / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D011524:Protoporphyrins / Q000378:metabolism; D012867:Skin / Q000473:pathology; D013472:Sunlight
D011524:Protoporphyrins; D002338:Carotenoids