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Porphyria Cutanea Tarda and Pseudoporphyria

  • Marjolein S. BruijnEmail author
  • Jorrit B. Terra
Chapter

Abstract

Porphyria cutanea tarda (PCT) is a metabolic disorder caused by genetic or acquired partial deficiencies in the heme biosynthesis pathway. This results in accumulation of photoactive porphyrins, mainly uroporphyrins. Pseudoporphyria is a disorder caused by abnormal drug metabolites that accumulate as photoactive substances. PCT and pseudoporphyria clinically present with symptoms including photosensitivity, skin fragility, bullae, erosions, crusts, and scarring. Cutaneous symptoms exclusively involve sun-exposed skin.

Diagnosis is based on a combination of clinical and immune-histopathological features. The level of uroporphyrin in urine is raised in PCT, whereas it is normal in pseudoporphyria.

Therapy consists of sun protection. Triggering factors like alcoholism, estrogen therapy, and hepatitis C should be eliminated in patients with PCT. Phlebotomy and low-dose chloroquine are therapeutic options. In pseudoporphyria the culprit drug should be stopped.

Keywords

Porphyria cutanea tarda Pseudoporphyria Vesicular bullous disease Sun exposure 

Notes

Acknowledgements

We wish to thank M. Gyldenløve (Department of Dermato-Allergology, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark) for providing Figure 22.3.

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Additional Reading

  1. Horner ME, Alikhan A, Tintle S, Tortorelli S, Davis DM, Hand JL. Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Int J Dermatol. 2013;52:1464–80.CrossRefPubMedGoogle Scholar
  2. Tintle S, Alikhan A, Horner ME, Hand JL, Davis DM. Cutaneous porphyrias part II: treatment strategies. Int J Dermatol. 2014;53:3–24.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Department of DermatologyCenter for Blistering Diseases, University Medical Center Groningen, University of GroningenGroningenthe Netherlands

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