Pseudoxanthoma Elasticum: Case Report
Abstract
Pseudoxanthoma Elasticum (PXE) is a rare hereditary autosomal recessive disorder with a molecular defect in the ABCC6 gene. This dysfunction causes accumulation of calcium that causes degeneration of the elastic fibers, mainly in the eyes, cardiovascular system and skin. The case of a 61-year-old patient with PXE, with decreased visual acuity for 5 years and asymptomatic yellowish papules in the underarms and neck for 30 years is presented.
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References
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