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Porphyria cutanea tarda
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Porphyria cutanea tarda

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Contributors: Lauren Ko, Belinda Tan MD, PhD, Susan Burgin MD
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Synopsis

Porphyrias are the result of enzyme deficiencies in the heme biosynthetic pathway leading to an abnormal accumulation of metabolites. Porphyria cutanea tarda (PCT) is the most common porphyria. It is caused by an acquired (type I) or inherited autosomal dominant (type II) deficiency of uroporphyrinogen decarboxylase III (UROD).

In most cases of PCT, even inherited cases, liver toxicity (eg, from alcohol abuse disorder, exogenous estrogen exposure, hepatitis C virus infection, hemochromatosis, other causes of iron overload, or hepatic tumors) causes or exacerbates the effects of the enzymatic deficiency. Uroporphyrins subsequently accumulate in the liver and the skin. In the presence of visible light in the Soret band (400-410 nm) and oxygen, porphyrins release energy, and the resultant reactive oxygen species damage tissues. This manifests clinically as skin fragility, blistering, hypertrichosis, scarring, and sclerodermoid plaques. Photo-onycholysis may be seen. Patients may also notice urine discoloration.

Although historically seen in men due to excessive alcohol consumption, it is also seen in women with liver disease or who take exogenous estrogen. The disease usually begins in middle age, or sooner in those with alcohol use disorder. Higher incidence of PCT is reported in patients with human immunodeficiency virus (HIV); however, the increased incidence may be related to concomitant hepatitis C virus infection, drug-induced hepatotoxicity, or comorbid alcohol and/or smoking abuse.

For more information, see OMIM.

Codes

ICD10CM:
E80.1 – Porphyria cutanea tarda

SNOMEDCT:
61860000 – Porphyria cutanea tarda

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Best Tests

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Management Pearls

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Therapy

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Drug Reaction Data

Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.

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References

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Last Reviewed: 07/11/2017
Last Updated: 11/03/2017
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Porphyria cutanea tarda
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Porphyria cutanea tarda : Dorsum of hand, Hypertrichosis, Photosensitivity, Tense vesicles, Arms
Clinical image of Porphyria cutanea tarda
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