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[Pseudoxanthoma elasticum, 5 case reports].

Radhia Aissaoui1, Faten Derbel, Amel Jallouli

  • 1Unité de l'Hôpital de jour, Tunis.

Presse Medicale (Paris, France : 1983)
|October 25, 2003
PubMed
Summary

Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder. This report details five cases, highlighting unusual manifestations like reticulated pigmentation and aortic dilation, emphasizing the importance of early diagnosis.

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Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Dermatology and ophthalmology

Context:

  • Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease.
  • PXE presents with diverse systemic manifestations.
  • Diagnosis is often histopathological, but molecular methods are emerging.

Purpose:

  • To report five cases of Pseudoxanthoma elasticum (PXE).
  • To highlight unusual clinical manifestations of PXE.
  • To emphasize the diagnostic criteria and prognosis of PXE.

Summary:

  • Five cases of PXE are presented, including typical cutaneous and ocular findings (papules, angioid streaks) and less common cardiovascular complications (hypertension, aortic dilation, arteriopathy, stroke).
  • Skin biopsy, even from unaffected skin, can aid diagnosis, with histopathology remaining the gold standard.

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  • The study notes the high frequency of cutaneous (70-85%) and ocular (90%) manifestations, with vascular lesions significantly impacting prognosis.

    • Impact:

    • This case series expands the understanding of PXE's clinical spectrum.
    • It underscores the importance of recognizing varied manifestations for timely diagnosis and management.
    • Early diagnosis of PXE, through clinical and potentially molecular means, is crucial for improving patient outcomes and prognosis.