Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications. PXE affects approximately 1 in 160,000 people, typically appearing as a formation of yellow papules containing abnormally calcified elastic fibres. The renal involvement of PXE has been reported. Several factors are known to promote soft tissue and accelerated arterial calcification in chronic kidney disease, including systemic inflammation, altered calcium and phosphate homeostasis, hypertension and a deficiency of endogenous calcification inhibitors. Given the impact of this disease, nephrologists may seek additional supportive features to improve and avoid the risk of complications. Moreover, PXE per se represents an interesting model to evaluate vascular disease in the early stages of renal disease. LEARNING POINTS: Pseudoxanthoma elasticum represents a rare disease that can involve renal problems. Vascular compromise in patients affected by pseudoxanthoma elasticum shares some components observed in patients with chronic kidney disease. Disorders of mineral and bone metabolism may coexist or be hidden in patients with pseudoxanthoma elasticum.