Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II - Takeaways - MDSpire

Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II

  • By

  • Xianghong Jin

  • Yixuan Li

  • Yaping Liu

  • Xianyong Jiang

  • Junling Zhuang

  • Min Shen

  • Miao Chen

  • July 13, 2026

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  • 1

    Porphyria cutanea tarda (PCT) can be triggered by hepatitis C virus (HCV) infection, iron overload, or environmental factors.

  • 2

    A 34-year-old man with SEC23B-mutated congenital dyserythropoietic anemia type II developed PCT associated with chronic HCV infection.

  • 3

    Initial treatment with hydroxychloroquine was ineffective, but sofosbuvir/velpatasvir achieved sustained virologic response and resolution of skin lesions.

  • 4

    The patient exhibited severe iron overload, with ferritin levels exceeding 1,200 ng/mL, contributing to oxidative stress and susceptibility to PCT.

  • 5

    This case highlights the interplay of genetic, viral, and environmental factors in the pathogenesis of PCT in patients with rare hematologic disorders.

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