Sams Hunter, Kiripolsky Monika G, Bhat Leena, Stricklin George P
Department of Medicine, Division of Dermatology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Cutis. 2004 Mar;73(3):188-90.
Porphyria cutanea tarda (PCT) is associated with estrogen, certain medications, alcohol abuse, hepatitis viruses, and iron overload. Numerous studies have demonstrated an increased incidence of hepatitis C in patients with PCT; therefore, hepatitis screening should be routinely performed on these patients. On the other hand, although studies have long suspected hereditary hemochromatosis (HH) to be an underlying condition of PCT, many physicians have a low index of suspicion. Also, diagnosis of HH has been difficult until recently, when the gene mutation was identified. We present a case of a patient with PCT, hepatitis C, and alcoholism who was homozygous for the HH gene mutation.
迟发性皮肤卟啉病（PCT）与雌激素、某些药物、酒精滥用、肝炎病毒及铁过载有关。大量研究表明，PCT患者丙型肝炎发病率增加；因此，应对这些患者常规进行肝炎筛查。另一方面，尽管长期以来研究一直怀疑遗传性血色素沉着症（HH）是PCT的潜在病因，但许多医生对此疑心较低。此外，直到最近发现基因突变之前，HH的诊断一直很困难。我们报告一例患有PCT、丙型肝炎和酒精中毒的患者，该患者HH基因突变呈纯合状态。
