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A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, Î¾Î±Î½Î¸Î¿Ï, yellow, is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids. Strictly, a xanthelasma is a distinct condition, only being called a xanthoma when becoming larger and nodular, assuming tumorous proportions.
Pseudoxanthoma Elasticum (PXE) is an autosomal recessive, multisystem disorder affecting connective tissues. We describe three cases of the acquired PXE-like syndrome that often occurs in association with hemolytic anemias, in particular the hemoglobinopathies, and review the literature on the subject.The pathogenesis of the acquired PXE-like lesions is not yet completely understood. 31 ], but no differences have been identified between the genotypes of PXE-positive thalassemia patients and those of the general beta-thalassemia population. The inherited PXE is caused by mutations in the ATP-binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene.