Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder

We present a case of a 34-year-old woman with a 12-week history of blistering skin lesions, ultimately diagnosed with co-existing porphyria cutanea tarda (PCT) and hereditary hemochromatosis (HH) due to a homozygous C282Y HFE mutation. The patient's discovered genetic predisposition to iron overload played a key role in the development of clinically symptomatic PCT. Treatment with serial therapeutic phlebotomy was started, dramatically improving her symptomatic cutaneous disease, iron indices, and liver function tests. The case brings to the fore the need for thorough diagnostics including genetic testing and the early identification and treatment of iron overload in patients with PCT. This case emphasizes the clinical effectiveness of reducing plasma iron by phlebotomy and underscores the importance of intervention to prevent the long-term complications of pathologic iron overload in PCT. This case report serves to supplement the paucity of existing literature detailing the complex association between PCT and HH and the diagnostic challenges of identifying these commonly co-existing conditions.