The first Swedish case of congenital erythropoietic porphyria, with a revised view of the porphyrin excretion pattern in this disease.
A case of congenital erythropoietic porphyria (CEP) in a Swedish boy is described. It is the second case of this extremely rare disease encountered in Scandinavia. Like the first Scandinavian case--a Norwegian boy--this patient showed a porphyrin excretion pattern like that of porphyria cutanea tarda (PCT) which was regarded as pointing to a hepatic type of porphyria. In the Norwegian boy this was regarded as atypical, but our study of the literature revealed two older cases with features pointing to a similar pattern and disclosed that analysis of the porphyrin pattern with modern methods, such as thin-layer chromatography, has not been performed in the great majority of the cases of CEP, because such methods were not available at the time these cases were published. Therefore, it is necessary to study more cases of CEP with modern analytical methods in order to get an adequate picture of the porphyrin pattern typical of this disease.
D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D004912:Erythrocytes / Q000032:analysis; D005243:Feces / Q000032:analysis; D005808:Genes, Recessive; D006801:Humans; D008107:Liver Diseases / Q000235:genetics; D008297:Male; D011164:Porphyrias / Q000235:genetics* / Q000378:metabolism; D011166:Porphyrins / Q000378:metabolism*; D012871:Skin Diseases / Q000235:genetics* / Q000378:metabolism; D013548:Sweden
D011166:Porphyrins