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PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

Jouni Uitto1, Qiujie Jiang1, András Váradi2

  • 1Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA.

Expert Opinion on Orphan Drugs
|November 11, 2014
PubMed
Summary

Dietary magnesium and lifestyle changes may help manage pseudoxanthoma elasticum (PXE), an orphan disease affecting skin, eyes, and cardiovascular health. These interventions show promise in reducing disease severity and improving quality of life for patients.

Keywords:
Pseudoxanthoma elasticumectopic mineralization disordersgeneralized arterial calcification of infancyheritable orphan diseases

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Area of Science:

  • Genetics and rare diseases
  • Dermatology and ophthalmology
  • Cardiovascular health

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare, multisystem disorder impacting skin, eyes, and the cardiovascular system.
  • Clinical symptoms stem from ectopic mineralization in connective tissues.
  • PXE shares features with other mineralization disorders like GACI, caused by mutations in ABCC6 or ENPP1 genes.

Purpose of the Study:

  • To review diagnostic criteria and management strategies for PXE.
  • To explore potential therapeutic avenues for this orphan disease.
  • To highlight the role of environmental factors in PXE phenotype.

Main Methods:

  • Review of diagnostic criteria including clinical, histopathological, and genetic findings (ABCC6 mutations).
  • Comparison with PXE-like disorders such as GACI (ENPP1 mutations).
  • Analysis of data from the Abcc6 mouse model to assess dietary influences.

Main Results:

  • PXE diagnosis relies on clinical presentation, skin biopsy, and ABCC6 gene analysis.
  • Inter- and intrafamilial heterogeneity necessitates accurate classification.
  • Murine models suggest dietary mineral composition, specifically magnesium, impacts mineralization severity.

Conclusions:

  • Dietary interventions, particularly magnesium intake, and lifestyle modifications like smoking cessation may mitigate PXE symptoms.
  • These non-pharmacological approaches offer potential for improving quality of life in PXE patients.
  • Further research into dietary and lifestyle impacts is warranted for this intractable orphan disease.