Researchers at the University of Alberta in Canada reported a case of porphyria cutanea tarda that presented with rare symptoms, such as skin scarring, loss of pigmentation, and hair loss.
The case report, “Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo,” was published in the journal Case Reports in Dermatology.
The patient, a 67-year-old woman, went to a dermatologist, reporting a two-year history of generalized skin rash. She also complained of vision problems and constant tearing from both eyes.
Her clinical history revealed she had low thyroid activity (hypothyroidism) for which she was treated with Levoxyl (levothyroxine), and had invasive breast cancer two years prior, for which she underwent surgery and received treatment with Nolvadex (tamoxifen). She also had a history of smoking.
In her family history, researchers noted that she had a sister with breast cancer and a daughter with vitiligo — a disease characterized by loss of skin pigmentation.
Initial physical examination showed significant changes in her skin affecting the entire head, neck, and upper truck. She also had alopecia, or severe hair loss, multiple scarred lesions on her neck and face, as well as dried, thickened skin on the limbs and trunk.
Evaluation of her eyes revealed redness, with signs of superficial lesions, and her eyelids had signs of irritation probably due to the excessive tearing.
The clinical team performed a blood analysis, which revealed that she had about 3.4 times higher levels of ferritin (a measure of iron in the body) and slightly elevated aspartate transaminase, which is indicative of liver damage. Results were negative for several liver diseases, including hepatitis C and hepatitis B, as well as for several autoantibodies linked to autoimmune disorders.
A urine analysis showed increased levels of several porphyrin molecules. She had 42 times higher levels of uroporphyrin I secretion per day in her urine, as well as about 30 times higher levels of uroporphyrin III. Her urine levels of coproporphyrin III, hepatocarboxylic, hexacarboxylic, and pentacar-boxylic porphyrins were also elevated.
Skin tissue biopsies revealed lesions caused by the accumulation of collagen with tissue scarring (scleroderma) and skin discoloration. A genetic analysis revealed she had an H63D mutation in the HFE gene, which is known to cause hereditary hemochromatosis, characterized by the accumulation of iron in the body.
Based on these findings, the clinical team diagnosed her with porphyria cutanea tarda likely triggered by the hemochromatosis carrier state, but possibly also by treatment with Nolvadex.
She stopped Nolvadex therapy, and started to apply high-potency steroids topical creams to the skin lesions. She also started treatment with 125 mg of oral chloroquine twice weekly, which was gradually increased to 250 mg daily, to resolve the porphyrin increase.
This treatment strategy was selected because she was not a suitable candidate for monthly phlebotomies — another commonly used treatment for porphyria cutanea tarda — due to chronic hemochromatosis.
One month after beginning treatment, she showed significant improvements of her skin lesions and porphyrin levels. However, during this period, she also developed extensive vitiligo affecting her face.
After three years of treatment, her skin issues significantly improved, and she had noticeable hair regrowth. At this point, the treatment was stopped, and she remained in remission for the next two years.
However, after spending some time in the sun and drinking alcohol, she developed a single blister on her hand. Her condition then progressed until she developed some skin lesions on her neck and face.
A new blood analysis revealed that she again had elevated porphyrins, which was in accordance with a diagnosis of recurrent porphyria cutanea tarda.