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Pseudoxanthoma elasticum and calcinosis cutis.

R Buka1, H Wei, A Sapadin

  • 1Department of Dermatology, The Mount Sinai Medical Center, New York, NY 10029, USA.

Journal of the American Academy of Dermatology
|July 25, 2000
PubMed
Summary

This case report details a patient with both calcinosis cutis and pseudoxanthoma elasticum, rare conditions presenting with skin calcifications and eye abnormalities. The findings suggest a potential link or co-occurrence of these distinct dystrophic calcification disorders.

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Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system.
  • Calcinosis cutis is a condition involving the deposition of calcium salts in the skin, often associated with metabolic disorders or as a complication of other skin conditions.

Observation:

  • A 42-year-old woman presented with clinical and histological evidence of both calcinosis cutis and pseudoxanthoma elasticum.
  • Manifestations included milia-like calcifications on the neck, characteristic funduscopic findings, peripheral vascular disease, and mottled skin in the axillae, groin, and neck.
  • A sibling exhibited similar skin lesions and progressive vision loss.

Findings:

  • The patient was normocalcemic and normophosphatemic, ruling out common metabolic causes for calcinosis cutis.

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  • The co-presentation of these two rare conditions in the patient and her sibling is noteworthy.
  • Histological examination confirmed the presence of both conditions.

    • Implications:

    • This case raises questions about a potential association between calcinosis cutis and pseudoxanthoma elasticum.
    • It may represent a coincidental occurrence of two rare diseases or indicate an underlying shared pathomechanism for dystrophic calcification in PXE.
    • Further research is needed to explore the genetic and molecular links between these conditions.