To report a case of porphyria cutanea tarda (PCT) triggered by hepatitis C virus (HCV) in a patient with congenital dyserythropoietic anemia type II (CDA II) due to SEC23B mutations.
Approach:
Case Presentation: A 34-year-old male with SEC23B-mutated CDA II developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload.
Key Findings:
The patient had compound heterozygous SEC23B mutations causing CDA II.
HCV infection was confirmed, and urinary porphyrins were positive.
Treatment with sofosbuvir/velpatasvir resulted in undetectable HCV RNA and resolution of skin lesions.
Interpretation:
The case illustrates the interplay of genetic, viral, and environmental factors in triggering PCT in patients with CDA II.
Limitations:
UROD activity was not directly measured in the patient.
The mechanistic model is based on established molecular knowledge rather than experimental data.
Conclusion:
This case highlights the importance of recognizing combined genetic and infectious factors in rare hematologic disorders.
