Miscellaneous Xanthomas

Miscellaneous Xanthomas

Jonathan B. McHugh, MD

Xanthelasmas typically symmetrically involve bilateral upper and lower eyelids and periorbital skin. Sharply demarcated soft yellow papules and plaques with a yellow color are characteristic.

Eruptive xanthomas are characterized by the sudden appearance of crops of small yellow papules with an erythematous base. Eruptive xanthomas typically occur in the buttock, thigh, and shoulder regions.



  • Mass-forming collection of lipidized macrophages

  • Reactive process usually resulting from altered serum lipid levels


Hereditary or Nonhereditary

  • Associated with hereditary lipoproteinemias and occasionally secondary lipoproteinemias (e.g., diabetes, hypothyroidism, primary biliary cirrhosis)

  • May also occur in normolipemic patients



  • Usually occur in skin and subcutaneous tissue

  • Occasionally arise in deep soft tissues (tendon, synovium, bone)

  • Classified based on clinical features

    • Xanthelasma

      • Soft yellow plaques; predilection for eyelids and periorbital skin; often bilateral

    • Eruptive xanthoma

      • Sudden onset of small yellow papules with erythematous halo; predilection for gluteal region, thigh, and shoulders

    • Tuberous xanthoma

      • Firm yellow subcutaneous nodules and plaques; predilection for elbow, knee, gluteal region, and fingers

    • Tendinous xanthoma

      • Soft tissue mass associated with tendons, ligaments, &/or fascia; predilection for hands, feet, and Achilles tendon

      • May impair joint function but often asymptomatic

    • Plane xanthoma

      • Variably sized yellow macules; predilection for palmar creases

      • In normolipemic patients, consider underlying reticuloendothelial malignancy

    • Cerebrotendinous xanthomatosis

      • Rare autosomal recessive disease; sterol 27-hydroxylase gene (CYP27A) mutation

      • Enzyme involved in bile acid synthesis; defect results in accumulation of cholestanol, which is deposited systemically

      • Bilateral Achilles tendon xanthomas and cataracts; CNS symptoms include ataxia, dementia, dysarthria, psychiatric disturbances, and seizures


  • May regress with medical therapy for hyperlipidemia or underlying cause if secondary

  • Conservative excision can be employed for large or symptomatic lesions


  • Excellent prognosis; surgically treated lesions may recur


General Features

  • Diffuse or circumscribed with variegated yellow, tan, and white appearance


  • Generally a few millimeters to centimeters depending on type

  • Tendinous xanthomas can be quite large (up to 20 cm)


Histologic Features

  • Specific classification requires clinicopathologic correlation

  • Consist of mixtures of foamy and nonfoamy macrophages with variable inflammation, fibrosis, and cholesterol cleft formation

  • Xanthelasmas and plane xanthomas consist of sheets of foamy macrophages

  • Eruptive xanthomas consist mostly of nonfoamy macrophages with some foamy macrophages

  • Tuberous and tendinous xanthomas consist of sheets of foamy macrophages with chronic inflammation, fibrosis, and cholesterol clefts with giant cells

Jul 9, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Miscellaneous Xanthomas
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