Fiza Shanover 4 years ago

Porphyria cutanea tarda

Porphyrias are rare, inherited or sometimes aquired, disorders which result from a defect in the heme synthesis pathway due to an enzyme deficiency. This defeciency leads to the accumulation and increased excretion of porphyrins or their precursors. Whenever there is an enzyme defect leading to accumulation of tertrapyrrole rings, patients present with photosensitivity. Porphyria cutanea tarda, the most common porphyria, belongs to the group of chronic hepatitic porphyrias. There is a deficiency of enzyme uroporphyrinogen decarboxylase. Factors like exposure to sunlight, hepatic iron overload, estrogen therapy, infections like hepatitis B or C and HIV and alchohol ingestion can exacerbate the expression of disease. Patients usually present during their 4th or 5th decade with photosensitivity, skin lesions like slowly healing skin eruptions and blisters, crusting and scarring of skin, hyperpigmentation, increased hair growth, especially facial. Urine is red to brown in natural light and pink or red in fluorescent light. Treatment may include phlebotomy, use of iron chelators or low doses of anti-malarial drugs like chloroquine or hyrdroxychloroquine. PCT is a risk factor for developing liver cirrhosis hence, life style changes should be adapted like avoiding alcohol and smoking, avoiding sunlight and application of sunscreen. Intake of estrogen should also be discontinued. Image via: https://images.app.goo.gl/66wCBZ1VQFzERHKW9 https://images.app.goo.gl/zWPzUSXUkwdGZpLy7 https://images.app.goo.gl/3pVoW1XruWaqF9hXA