What is the pathophysiology of variegate porphyria?

Updated: Aug 31, 2020
  • Author: Brenda Chiang, DO; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Answer

Variegate porphyria is an autosomal dominant inherited trait that results in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. It presents with chronic blistering skin lesions that are less prevelant in colder regions and dark-skinned individuals. [20] Variegate porphyria is found worldwide but has an exceptionally high frequency in South Africa. [21]


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