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Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.

Report of Cases. We describe 2 new unrelated patients with familial porphyria cutanea tarda (f-PCT) who harbored a G281E mutation (GGG→GAG, codon 281) in the uroporphyrinogen decarboxylase (UROD) gene (OMIM 613521). Patient 1 was a 49-year-old woman with hyperpigmentation, hypertrichosis, and bullous skin lesions. She had been undergoing hemodialysis since 2006 and tested positive for hepatitis C virus (HCV) infection. Patient 2 was a 35-year-old man with hypertrichosis and bullae on the dorsal aspects of his hands who had undergone renal transplantation in 1997. Biochemical analyses of urine, blood, and feces by fluorimetry and highperformance liquid chromatography confirmed a PCT pattern of porphyrin excretion. Subsequent analysis of UROD activity in erythrocytes and genotyping of the UROD gene confirmed the diagnosis of f-PCT with a G281E mutation in heterozygosity. The hemochromatosis (HFE) gene and iron parameters were also studied (Table).