Porphyria cutanea tarda

Porphyria cutanea tarda presents with blistering and crusted skin lesions on the back of hands and other sun-exposed areas of the body. Other common features include skin fragility, with minor trauma causing blister formation, hypertrichosis, skin hyperpigmentation, and dark or reddish urine.

Factors that contribute to susceptibility include alcohol use, smoking, hepatitis C, HIV, iron overload, hereditary hemochromatosis gene mutations, estrogen treatment, and uroporphyrinogen decarboxylase (UROD) mutations.

Results from an acquired, substantial deficiency of UROD in the liver.

Diagnosis is established by finding substantial increases in porphyrins in urine or plasma and excluding other blistering cutaneous porphyrias.

Treatment includes repeated phlebotomy or low-dose hydroxychloroquine or chloroquine; remission can usually be achieved within 6 months.

Porphyria cutanea tarda (PCT) is a blistering cutaneous condition caused by a substantial deficiency of hepatic uroporphyrinogen decarboxylase, the fifth enzyme in the heme biosynthetic pathway. Substrates for the deficient enzyme, which are porphyrinogens (reduced porphyrins), accumulate in the liver, are oxidized to porphyrins, transported to the skin, and cause photosensitivity.[1]Phillips JD, Anderson KE. The porphyrias (Chapter 59). In: Kaushansky K, Lichtman MA, Prchal JT, et al, eds. Williams Hematology, 10th ed. New York, NY: McGraw-Hill;2020:961-86. PCT is rare (prevalence approximately 1 in 25,000); however, it is the most common of the porphyrias. It is usually associated with liver cell damage.