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- E Wallaeys, U Thierling, E Lang, N J Neumann, and J Frank.
- Hautklinik und European Porphyria Specialist Center, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
- Hautarzt. 2014 Apr 1; 65 (4): 272-4.
AbstractA 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her décolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma.
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