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[Familial pseudoxanthoma elasticum]

F Revenga Arranz1, M Gamazo Carrasco, L Nevado López-Alegría

  • 1Unidad de Dermatología, Hospital Universitario Infanta Cristina, Badajoz.

Revista Clinica Espanola
|July 1, 1996
PubMed
Summary
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Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting elastic fibers. Early diagnosis via skin biopsy is crucial for managing visceral involvement and improving prognosis.

Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare genodermatosis characterized by abnormalities in elastic fibers.
  • The exact biochemical basis of PXE remains incompletely understood.
  • Prognosis is significantly influenced by the extent of internal organ involvement.

Observation:

  • This report details three sisters diagnosed with PXE, presenting with characteristic skin and retinal manifestations.
  • The affected individuals were aged 23, 21, and 19 years.
  • Clinical suspicion was confirmed through histopathological examination of skin biopsies.

Findings:

  • Cutaneous lesions are key indicators for early diagnosis of PXE.
  • Skin biopsy offers a high diagnostic yield for PXE.

Related Experiment Videos

  • The procedure for diagnosing PXE via skin biopsy demonstrates minimal patient morbidity.

    • Implications:

    • Early diagnosis of PXE through accessible cutaneous signs and biopsy is vital.
    • Understanding PXE's genetic basis and clinical spectrum aids in patient management.
    • Further research into PXE's biochemical underpinnings may reveal targeted therapies.