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[Sclerodermatous changes revealing porphyria cutanea tarda].

A Brunet1, E Hainaut1

  • 1Service de dermatologie, CHU de Poitiers, 2, rue de la Milétrie, 86021 Poitiers, France.

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Summary

Porphyria cutanea tarda (PCT) can present with unusual sclerodermatous lesions. Early diagnosis and phlebotomy treatment resolved these skin manifestations in a patient with hemochromatosis.

Keywords:
HemochromatosisHémochromatoseLésions scléreusesPorphyria cutanea tardaPorphyrie cutanée tardiveSclerodermatous changes

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Area of Science:

  • Dermatology
  • Hepatology
  • Genetics

Background:

  • Porphyria cutanea tarda (PCT) involves liver uroporphyrinogen decarboxylase deficiency, leading to porphyrin accumulation.
  • Classical PCT symptoms include blistering on sun-exposed skin.
  • PCT is often linked to liver conditions like hemochromatosis.

Observation:

  • A 59-year-old woman presented with sclerotic skin lesions on sun-exposed areas.
  • Investigations ruled out systemic scleroderma but revealed elevated urinary porphyrins.
  • The patient had a heterozygous H63D/C282Y mutation for hemochromatosis.

Findings:

  • Diagnosis of type 1 PCT was confirmed by normal uroporphyrinogen decarboxylase levels.
  • The sclerodermatous lesions were attributed to uroporphyrin accumulation stimulating dermal fibroblasts and collagen synthesis.
  • Regular phlebotomy treatment led to complete resolution of the cutaneous sclerosis.

Implications:

  • Sclerodermatous lesions are an atypical manifestation of PCT, potentially delaying diagnosis.
  • This case highlights the importance of considering PCT in patients with unexplained sclerotic skin changes.
  • Effective management of underlying conditions like hemochromatosis is crucial for treating PCT-related skin symptoms.