Case report reveals progressive jaundice and liver dysfunction in a woman with photosensitivity, suggesting porphyria.
This was the case of a 21-year-old woman with longstanding photosensitivity who developed progressive jaundice and liver dysfunction. The initial workup excluded common hepatobiliary and autoimmune causes. Skin and liver biopsies revealed characteristic histological features, including hyaline dermal deposits and birefringent pigments in the hepatic canaliculi. Elevated erythrocyte protoporphyrin levels and genetic testing confirmed erythropoietic protoporphyria with hepatic involvement. Despite supportive care, she required liver transplantation and later died of infectious complications. This case underscores the importance of considering porphyria in patients with combined cutaneous and hepatic manifestations and highlights the diagnostic value of clinicopathological correlations.
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Falcón‐Antonio et al. (2025) studied this question.
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