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Dermatology · Bullous disorders: porphyria cutanea tarda
Sample itemA man with chronic alcohol use and hepatitis C has fragile skin, blisters and milia on the dorsum of the hands, with hypertrichosis on the face. Urine fluoresces coral pink under Wood's lamp. Which enzyme is deficient?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Uroporphyrinogen decarboxylase
Porphyria cutanea tarda, the commonest porphyria, results from reduced hepatic uroporphyrinogen decarboxylase activity, aggravated by iron, alcohol, estrogens and hepatitis C. Management includes phlebotomy or low-dose hydroxychloroquine and avoiding precipitants.
Option by option
A. Ferrochelatase
Ferrochelatase deficiency causes erythropoietic protoporphyria with painful photosensitivity.
B. Delta-aminolevulinic acid dehydratase
ALA dehydratase deficiency is a rare acute porphyria.
C. Uroporphyrinogen decarboxylase (correct)
Correct. Uroporphyrinogen decarboxylase deficiency causes PCT.
D. Porphobilinogen deaminase
Porphobilinogen deaminase deficiency causes acute intermittent porphyria, which lacks skin lesions.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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