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Pseudoxanthoma elasticum.

Dominique P Germain1

  • 1Division of Medical Genetics, University of Versailles - Saint Quentin en Yvelines, Paris-Saclay University, 2 avenue de la source de la Bièvre, F-78180, Montigny, France. dominique.germain@uvsq.fr.

Orphanet Journal of Rare Diseases
|May 11, 2017
PubMed
Summary
This summary is machine-generated.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting skin, eyes, and blood vessels due to ABCC6 gene mutations. Current treatments manage symptoms, but future therapies like gene editing offer hope.

Keywords:
ABCC6Angioid streakChoroidal neovascularizationEctopic mineralizationMetabolic diseasePeripheral arterial diseasePseudoxanthoma elasticumSkin

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Area of Science:

  • Genetics
  • Metabolic Diseases
  • Dermatology
  • Ophthalmology
  • Cardiology

Background:

  • Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder caused by mutations in the ABCC6 gene.
  • It leads to ectopic mineralization in elastic tissues, affecting skin, eyes, and vasculature.
  • PXE prevalence is estimated between 1:100,000 and 1:25,000, with a slight female predominance.

Purpose of the Study:

  • To provide a comprehensive overview of Pseudoxanthoma elasticum (PXE).
  • To detail the genetic basis, clinical manifestations, and current understanding of PXE pathophysiology.
  • To outline existing and potential future therapeutic strategies for PXE.

Main Methods:

  • Review of existing literature on Pseudoxanthoma elasticum (PXE).
  • Analysis of clinical presentation, genetic mutations (ABCC6 gene), and pathological findings.
  • Summary of current treatment modalities and emerging therapeutic approaches.

Main Results:

  • PXE is characterized by skin papules, angioid streaks in the eyes leading to vision loss, and vascular calcification causing peripheral artery disease.
  • Pathologically, PXE involves fragmented, calcified elastic fibers in the dermis and Bruch's membrane.
  • Low circulating levels of the anti-mineralization factor inorganic pyrophosphate (PPi) are linked to ABCC6 mutations and impaired hepatocyte ATP release.

Conclusions:

  • PXE is a complex metabolic disease with significant multi-systemic implications.
  • Current management focuses on symptomatic treatment, including anti-VEGF therapy for ocular issues and vascular risk factor modification.
  • Future research directions include gene therapy, gene editing, and pharmacologic chaperone therapy for potential PXE cures.