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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Clinical manifestations and diagnosis

Ashwani K Singal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD


The porphyrias are metabolic disorders caused by altered activity of enzymes in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT; previously called symptomatic porphyria, chemical porphyria, toxic porphyria) is the most common of the porphyrias. PCT was named by Waldenström in 1937 to emphasize the predominant cutaneous manifestations and relatively late onset of disease [1]. An earlier name for PCT was chronic hematoporphyria (assigned by Günther in 1911) [2].

This topic review discusses the pathogenesis, clinical manifestations, and diagnostic evaluation for PCT, caused by deficient activity of uroporphyrinogen decarboxylase (UROD) in the liver, with heterozygous UROD mutation sometimes contributing, and hepatoerythropoietic (HEP), an extremely rare condition caused by biallelic UROD mutation.

The management and prognosis of PCT and HEP are discussed in detail separately. (See "Porphyria cutanea tarda and hepatoerythropoietic porphyria: Management and prognosis".)

Additional topic reviews discuss the other cutaneous, neurovisceral, and combined cutaneous/neurovisceral porphyrias:

Cutaneous – (See "Congenital erythropoietic porphyria" and "Erythropoietic protoporphyria and X-linked protoporphyria".)

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Literature review current through: Sep 2017. | This topic last updated: Aug 18, 2017.
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