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Porphyria cutanea tarda
Singapore Medical Journal
|December 8, 2000
Summary
Porphyria cutanea tarda (PCT), a rare metabolic disorder, causes blistering on sun-exposed skin due to enzyme deficiencies. Diagnosis involves urine fluorescence, with treatment including chloroquine and venesection.
Area of Science:
- Biochemistry
- Dermatology
- Genetics
Background:
- Porphyrias are rare metabolic disorders stemming from enzyme deficiencies in the heme biosynthesis pathway.
- Porphyria cutanea tarda (PCT) is the most prevalent porphyria but infrequently observed in Asian populations.
Observation:
- A case of PCT is presented in an Asian patient.
- Clinical presentation included blistering eruptions on sun-exposed skin areas.
Findings:
- Diagnostic confirmation relies on detecting coral pink fluorescence of uroporphyrins in acidified urine.
- The underlying cause is a specific enzyme deficiency affecting porphyrin-heme metabolism.
Implications:
- Highlights the occurrence of PCT in Asian countries, challenging previous assumptions.
- Effective treatment strategies include low-dose chloroquine and interval phlebotomy (venesection).
- Early diagnosis and management are crucial for patients with PCT.
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