[Hepato-erythrocytic porphyria. A new type of porphyria].
A case of porphyria with symptomatology beginning in early infancy with peculiar biochemical features is described. There were crops of blisters, an extraordinary hypertrichosis and scarring of the exposed skin. The porphyrin examination showed an abnormal excretion pattern of urinary porphyrins with large amounts of 5-COOH carboxyle porphyrins and the protoporphyrin level of the red cells was raised. There was fluorescence of the erythrocytes and erythroblasts. The porphyrin excretion pattern of the stools was similar to those of the PCT. This case is closely similar to another published by the authors in 1969 and to 2 published by Schneider and Simon. The authors consider that could represent a new type of porphyria.
D002648:Child; D005145:Face; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000209:etiology; D008099:Liver / Q000378:metabolism; D011164:Porphyrias / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D011166:Porphyrins / Q000378:metabolism*; D012871:Skin Diseases / Q000209:etiology
D011166:Porphyrins
Porphyrie hépato-érythrocytaire. Une nouvelle forme de porphyrie