The Dual of Porphyria Cutanea Tarda and Hemochromatosis

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Porphyria Cutanea Tarda (PCT) is a condition characterized by accumulation of the carboxyl group substituent’s uroporphyrin I and heptacarboxyl porphyrin III resulting in increased iron storage and photosensitivity dermatitis. Here we present a case of a 51-year-oldman who presented with bilateral dorsal hand lesions and iron overload toxicity. Further screening revealed PCT resulting from a mutation in Uroporphyrinogen Decarboxylase (UROD) as well as from genetichemochromatosis (HFE) caused by C282Y homozygosity. The patient was treated successfully with phlebotomy.

Porphyria is an encompassing term for diseases in which Uroporphyrinogen Decarboxylase (UROD) deficiency results in overproduction of 4-8 carboxyl group substituents. Porphyria Cutanea Tarda (PCT) is characterized by the accumulation of uroporphyrin I, heptacarboxyl porphyrin III and iron overload toxicity. Deposition and photoexcitement of these porphyrins in the skin cause oxidative damage to the surrounding tissues resulting in classical PCT photosensitivity dermatitis. We present a case of a man who presented with sporadic season dependent bilateral cutaneous lesions on his dorsal hands and nailbeds, who was found to have new onset porphyria cutanea tarda as well as C282Y mutation homozygosity resulting in genetichemochromatosis (HFE) and underlying Hepatitis C (HCV) with undetectable viral load.

A 51-year-old male with a long-standing history of hepatitis C secondary to past intravenous drug use with undetectable viral load, and diabetes Type II presented to his primary care physician with worsening cutaneous lesions that had been appearing on his hands. During the past 7summershe would experience painful dorsal upper extremities resulting in disfiguration of his hands and nails (Figure 1). The patient’s daily medications were Lisinopril 20mg and Linagliptin 5mg once daily, Metformin 1000mg twice daily and insulin Detemir subcutaneously. He denied any supplemental iron usage or previous erythrocyte transfusions and denied any similar family history. At the time of his initial visit he had been referred to a dermatologist who performed a shave biopsy of the right index finger.