PORPHYRIA CUTANEA TARDA (CLINICAL CASE)

Abstract

Porphyria Cutanea Tarda (PCT) is the most common of the Porphyrias and results from a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). Porphyria Cutanea Tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur. PCT is essentially an acquired disease, but some individuals have a genetic (autosomal dominant) deficiency of UROD that contributes to development of PCT. These individuals are referred to as having ”familial PCT”. Most individuals with the inherited enzyme deficiency remain latent and never have symptoms

Large amounts of porphyrins build up in the liver when PCT is becoming active. The disease becomes active when acquired factors, such iron, alcohol, Hepatitis C virus (HCV), HIV, estrogens (used, for example, in oral contraceptives and prostate cancer treatment) and possibly smoking, combine to cause a deficiency of UROD in the liver. Hemochromatosis, an iron overload disorder, also can predispose individuals to PCT. In patients with acquired PCT, males and females are affected more than males. The disorder usually develops after the age of 30 and its onset in childhood is rare. PCT is found worldwide and in all races. PCT is a rare disorder the prevalence is estimated to be approximately 1 case in every 10.000 to 25,000 individuals in the general population.