Congenital erythropoietic porphyria affecting two brothers.
We report two brothers, aged 5 and 2 years, with typical features of congenital erythropoietic porphyria. The elder did not receive medical attention until the age of 2 years, even though his urine had been red almost from birth, and despite severe scarring of the hands and face. The younger brother suffered haemolysis at birth. The uroporphyrinogen III cosynthase (URO IIIS) enzyme activity of red blood cells was 2% and 1.2% in the brothers, and genetic studies showed two different mutations of the URO IIIS gene, C73R and P248Q. The latter is a recently described mutation.
Herrera Saval
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Department of Dermatology, Hospital Universitário Virgen Macarena, Avda Dr Fedriani s/n, Seville 41009, Spain.
Moruno Tirado
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D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology*; D006229:Hand Dermatoses / Q000097:blood* / Q000235:genetics / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D017092:Porphyria, Erythropoietic / Q000097:blood* / Q000235:genetics / Q000652:urine; D014576:Uroporphyrinogen III Synthetase / Q000097:blood* / Q000235:genetics
D014576:Uroporphyrinogen III Synthetase