Wallaeys E, Thierling U, Lang E, Neumann N J, Frank J
Hautklinik und European Porphyria Specialist Center, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
Hautarzt. 2014 Apr;65(4):272-4. doi: 10.1007/s00105-014-2783-6.
A 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.
一名55岁女性，双手背部出现水疱，胸部皮肤光亮、增厚。实验室检查显示尿中总卟啉和高羧化卟啉增加，HFE基因C282Y突变纯合。组织病理学显示胸骨前区胶原纤维增厚。基于这些发现，我们诊断为迟发性皮肤卟啉病伴假性硬皮病和血色素沉着症。假性硬皮病是迟发性皮肤卟啉病的一种罕见并发症，但也可能是该疾病的首发皮肤症状，从而引导诊断。通常，对迟发性皮肤卟啉病进行充分治疗，使卟啉值恢复正常，也会使假性硬皮病得到改善。
