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Porphyria cutanea tarda.

C Fritsch1, K Lang, S von Schmiedeberg

  • 1Department of Dermatology, Heinrich Heine University, Düsseldorf, Germany.

Skin Pharmacology and Applied Skin Physiology
|May 27, 1999
PubMed
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Porphyria cutanea tarda (PCT), the most common porphyria, stems from low uroporphyrinogen decarboxylase (Uro-D) activity. Treatment involves chloroquine and bloodletting to manage this condition.

Area of Science:

  • Biochemistry
  • Dermatology
  • Genetics

Background:

  • Porphyria cutanea tarda (PCT) is the most prevalent porphyria, characterized by reduced uroporphyrinogen decarboxylase (Uro-D) activity.
  • Distinguishing PCT from pseudoporphyrias and understanding triggers like estrogens, alcohol, and P450 isoenzyme inducers is crucial.
  • Genetic factors (P450 polymorphisms), iron overload, and hepatitis C virus infection are key in PCT development.

Purpose of the Study:

  • To summarize the current understanding of Porphyria cutanea tarda (PCT) pathogenesis, clinical presentation, biochemical findings, and therapeutic strategies.
  • To highlight the enzymatic defect and contributing factors in the manifestation of PCT.

Main Methods:

  • Review of known biochemical defects and etiological factors contributing to Porphyria cutanea tarda.

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  • Analysis of clinical symptoms, including skin manifestations like bullae and hypertrichosis.
  • Examination of biochemical markers such as urinary and fecal porphyrin levels.

    • Main Results:

    • PCT is linked to decreased uroporphyrinogen decarboxylase (Uro-D) activity, with four known disturbance types.
    • Clinical signs include skin blistering, fragility, hypertrichosis, and elastosis.
    • Biochemical analysis reveals elevated urinary porphyrins (uroporphyrin, heptacarboxylic porphyrin) and fecal isocoproporphyrin.

    Conclusions:

    • Effective treatment for Porphyria cutanea tarda involves oral chloroquine (125 mg twice weekly) and/or repetitive bloodlettings.
    • Understanding the interplay of genetic, environmental, and infectious factors is vital for managing PCT.