Porphyria cutanea tarda

Abstract

Porphyria cutanea tarda (PCT) is the most frequent form of porphyria. The underlying enzymatic defect in PCT is a reduced activity of the enzyme uroporphyrinogen decarboxylase (Uro-D). Four different types of Uro-D disturbances are known. Pseudoporphyrias such as porphyria cutanea uraemica or drug-induced PCT-like skin symptoms are distinguished from PCT. Porphyrinogens such as estrogens or alcohol, or other inducers of P450 isoenzymes provoke PCT. Polymorphisms of P450 isoenzymes, iron overload and infection with hepatitis C virus play an important role in the etiopathogenesis of disease manifestation. Dominant clinical symptoms are bullae, increased cutaneous vulnerability, hypertrichosis and elastosis. Biochemically, total porphyrin levels in urine are increased with a predominance of uroporphyrin and heptacarboxylic porphyrin. Isocoproporphyrin is demonstrable in feces. Best therapeutic strategies are the oral administration of chloroquine 125 mg twice a week and repetitive bloodlettings or the combination of both.