Precipitating factors of porphyria cutanea tarda in Brazil with emphasison hemochromatosis gene (HFE) mutations. Study of 60 patients

摘要

BACKGROUND Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil.