Porphyria Cutanea Tarda: A Multifactorial Disease

Porphyria cutanea tarda (PCT) is a disorder characterized by porphyrin accumulation leading to photosensitivity and skin fragility, often triggered by a combination of genetic, autoimmune, and environmental factors. This case describes a 39-year-old woman with primary Sjögren syndrome (pSS) and heterozygosity for the HFE H63D mutation who developed PCT following hydroxychloroquine (HCQ) therapy. Initial symptoms included xerostomia, fatigue, and skin lesions. Laboratory tests showed liver enzyme elevation, leukopenia, hyperferritinemia, and positive anti-SSA/SSB antibodies. Hydroxychloroquine-induced hepatotoxicity prompted treatment discontinuation, and porphyrin analysis confirmed PCT. Despite the absence of UROD gene mutations, the interplay between pSS, iron overload, and medication exposure supported a diagnosis of sporadic PCT. The patient was successfully managed with low-dose HCQ for porphyrin clearance and azathioprine for autoimmune disease control. This case highlights the importance of recognizing multifactorial contributors in PCT and tailoring treatment accordingly to avoid complications.