[Erythropoietic protoporphyria].
A 21-year-old patient was observed with oedematous-purpura-like skin changes since earliest childhood occurring in areas with short-term exposure to sunlight. The history suggested erythropoetic protoporphyria and the diagnosis was established by demonstration of fluorocytes in peripheral blood and subsequent porphyrin analysis. Whereas chronic persistent skin changes characteristic of erythropoetic protoporphyria were largely absent, histologic and immunohistologic findings were typical. The patient had been considered a "neurotic outsider" for many years because of his aversion to light which was considered abnormal.
D000328:Adult; D002338:Carotenoids / Q000627:therapeutic use; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology; D008297:Male; D010787:Photosensitivity Disorders / Q000473:pathology*; D011164:Porphyrias / Q000150:complications / Q000188:drug therapy / Q000473:pathology*; D011524:Protoporphyrins / Q000097:blood; D012871:Skin Diseases / Q000473:pathology*; D019207:beta Carotene
D011524:Protoporphyrins; D019207:beta Carotene; D002338:Carotenoids
Erythropoetische Protoporphyrie.