Porphyria Cutanea Tarda – a Case Report

Porphyria cutanea tarda is a metabolic disorder that results from a reduced enzymatic activity of uroporphyrinogen decarboxylase. It is the commonest chronic porphyria. Two types of this disease have been reported up to now: acquired (Type 1, 80%) and inherited (Type 2, 20%) an autosomal dominant pattern with low clinical penetrance. Both types are associated with haemochromatosis, alcohol abuse, estrogens, iron overload, hepatitis C virus infection, and halogenated aromatic hydrocarbons causing deficiency of the uroporphyrinogen decarboxylase enzyme in the liver. In this case report we described a 23-year-old woman with increased hair growth on the face and neck, who visited an outpatient dermatology clinic for laser hair removal due to excessive hair growth on the face and neck during the last eight years (Figures 1, 2). Four laser treatments were carried out with incomplete effects. After the fourth laser hair removal treatment, a small sore on the tip of the nose was observed. The patient used oral contraceptive pills during the past 8 months. No additional medications were taken. The diagnosis of porphyria cutanea tarda was confirmed by specific biochemical analyses, since increased excretion of uroporphyrin and coproporphyrin were detected. After discontinuation of drospirenone and ethinyl estradiol (YazÒ tablets) a gradual clinical and laboratory improvement was noticed suggesting a causative role of this drug. There are many published reports discussing and describing estrogens as contraceptive agents, hormone supplements for postmenopausal replacement therapy in females, and adjunctive hormonal therapy in males with prostatic carcinoma, being the probable trigger of porphyria cutanea tarda. However, the mechanisms by which estrogens exert their effects on disease expression have not yet been fully clarified. Conclusion: this case report points to the importance of hypertrichosis as the first manifestation of porphyria cutanea tarda, since it may be a long lasting sign before the onset of other clinical symptoms of the disese