Year: 2026
Type: article
Study design: Case Report
Abstract: Porphyrias are a rare group of metabolic disorders due to hereditary or acquired deficiency of enzymes of the heme biosynthetic pathway. They manifest with neurovisceral and/or cutaneous symptoms depending on the defective enzyme. Porphyria cutanea tarda (PCT) is a common subtype mainly affecting the skin with blisters and easy skin fragility on photo-exposed sites with an estimated prevalence of 1 in 10000 to –1 in 25000. It results from altered activity of the uroporphyrinogen III decarboxylase (UROD) enzyme, causing accumulation of photosensitive carboxylated porphyrins such as uroporphyrinogen in the skin and liver. We report a case of a 46-year-old male farmer presenting with photosensitivity, blistering, and easy skin fragility on photo-exposed and trauma-prone sites for 2 years. He was diagnosed and treated as PCT after clinical and laboratory evaluation.
Institution: Institute of Medical Sciences and Sum Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7125397013