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[Porphyria cutanea tara].

H F Merk1,2

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PubMed
Summary
This summary is machine-generated.

Porphyria cutanea tarda (PCT) is the most common porphyria, caused by uroporphyrinogen decarboxylase (UROD) inhibition. Risk factors like alcohol and hepatitis C, along with genetic mutations, trigger this condition.

Keywords:
Aryl-hydrocarbon-receptorChloroquineHexachlorobenzeneSunscreening agentsUroporphyrinogen decarboxylase

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Area of Science:

  • Biochemistry
  • Dermatology
  • Genetics

Background:

  • Porphyria cutanea tarda (PCT) is the most prevalent porphyria globally, affecting approximately 40 individuals per million annually.
  • It stems from the inhibition of uroporphyrinogen decarboxylase (UROD), often due to UROD gene mutations.
  • Environmental factors and co-existing conditions significantly contribute to PCT onset.

Purpose of the Study:

  • To detail the prevalence, causes, and clinical manifestations of Porphyria cutanea tarda.
  • To identify key risk factors and triggers associated with PCT development.
  • To outline current therapeutic strategies for managing PCT.

Main Methods:

  • Literature review of epidemiological data on PCT prevalence.
  • Analysis of genetic and environmental factors contributing to UROD inhibition.
  • Compilation of clinical signs, symptoms, and treatment protocols for PCT.

Main Results:

  • PCT diagnosis rates are around 40 new cases per million people yearly.
  • Hereditary UROD gene mutations and acquired factors like alcohol, iron overload, and hepatitis C are primary causes.
  • Clinical presentation includes skin fragility, blisters, erosions, hyperpigmentation, and sclerodermoid plaques.

Conclusions:

  • PCT is a common porphyria influenced by genetic and environmental factors.
  • Early identification of risk factors and prompt treatment are crucial for managing PCT.
  • Therapeutic approaches involve sun protection, risk factor avoidance, phlebotomy, and chloroquine administration.