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Xanthoma disseminatum: case report.

Dijana Celić1, Jaka Rados, Jasna Lipozencić

  • 1Medikol Outpatient Department, Zagreb University Medical Center, Dobri dol 49, 10000 Zagreb, Croatia. dijana_celic@yahoo.com

Acta Dermatovenerologica Croatica : ADC
|December 14, 2004
PubMed
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Xanthoma disseminatum, a rare histiocytic disorder, presented in a 71-year-old man with skin lesions and organ involvement. The case highlights diagnostic challenges due to unclear etiology and normal lipid levels.

Area of Science:

  • Dermatology
  • Histopathology
  • Rare Diseases

Background:

  • Xanthoma disseminatum (XD) is a rare, benign, non-Langerhans' cell histiocytic disorder.
  • Its etiology remains largely unknown, presenting diagnostic challenges.

Observation:

  • A 71-year-old male presented with a 3-year history of disseminated symmetric yellowish papules and plaques.
  • Lesions affected the skin, oral mucosa, and were associated with fatty infiltration of the liver and pancreas, and cardiac complaints.
  • Prominent xanthomatous rhinophyma was noted on the face.

Findings:

  • Clinical, immunohistochemical, and histological findings confirmed the diagnosis of xanthoma disseminatum.
  • Despite a family history of cardiovascular disease and symptoms suggestive of hyperlipidemia, plasma lipid levels were consistently normal.

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  • The patient's presentation suggested multiple potential etiologic factors, complicating classification within established nosologic entities.

    • Implications:

    • This case underscores the diagnostic complexity of xanthoma disseminatum, particularly when typical hyperlipidemia markers are absent.
    • It emphasizes the need for thorough investigation into potential contributing factors in rare histiocytic disorders.
    • Further research into the diverse etiologies of xanthoma disseminatum is warranted.