Porphyrias with cutaneous manifestations
Blistering photosensitivity (porphyria cutanea tarda, variegate porphyria) versus acute painful phototoxicity (erythropoietic protoporphyria). Plasma fluorescence scanning, the precipitants to chase in PCT (iron, HFE, hepatitis C, alcohol, oestrogen), venesection and low-dose hydroxychloroquine, pseudoporphyria, and afamelanotide.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Porphyrias are defects in haem synthesis. Skin disease comes from porphyrins deposited in skin absorbing visible light (Soret band, about 400 to 410 nm) and generating reactive oxygen species.
- Two cutaneous patterns:
- Blistering, fragile skin on the backs of the hands, developing over days: porphyria cutanea tarda (PCT), variegate porphyria (VP), hereditary coproporphyria (HCP), and rare congenital erythropoietic porphyria.
- Immediate burning pain within minutes of sunlight, with few visible signs: erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP).
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Sources
- Porphyria (Royal Melbourne Hospital Porphyria Expert Centre and State Reference Laboratory)AU/NZThe Royal Melbourne Hospital, accessed November 2026
- AusPAR: afamelanotide (Scenesse) and Australian product informationAU/NZTherapeutic Goods Administration, 2021
- Leaf RK, Dickey AK. Porphyria cutanea tarda: a unique iron-related disorder. Hematology Am Soc Hematol Educ Program 2024;2024(1):450-456American Society of Hematology, 2024
- Singal AK et al. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol 2012;10:1402-1409Clinical Gastroenterology and Hepatology, 2012
- Langendonk JG et al. Afamelanotide for erythropoietic protoporphyria. N Engl J Med 2015;373:48-59New England Journal of Medicine, 2015
- The Drug Database for Acute PorphyriaNorwegian Porphyria Centre (NAPOS) and European Porphyria Network, accessed November 2026
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Personal emails, About story and Australian-style copy