Pseudoxanthoma Elasticum: report of a case with a novel gene mutation

摘要

Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. PXE is caused by mutations in the ABCC6 gene but the specific pathophysiology of this condition remains unknown. We present a case of a patient who was diagnosed with PXE after experiencing vision loss following minor ocular trauma. Our patient had angioid streaks in her right eye, skin laxity of the bilateral dorsal hands, and yellow papules coalescing on the posterior neck. The diagnosis of PXE was confirmed by histopathological examination. PCR amplification of the patient's ABCC6 gene demonstrated a novel gene mutation that is believed to be pathogenic. Patients with PXE are at an increased risk of visual and potentially life-threatening cardiovascular complications. Early diagnosis provides the patient a greater chance of reducing associated morbidity and mortality