Chronic Total Occlusion Recanalization in a 14-Year-Old Girl With Pseudoxanthoma Elasticum

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a hereditary disorder causing progressive arterial mineralization that may cause premature coronary disease in children. CASE SUMMARY: A 14-year-old girl with exertional angina since age 8 was diagnosed with PXE after her mother used an artificial intelligence tool to identify skin lesions. Coronary imaging revealed mid-left anterior descending artery chronic total occlusion without CT macrocalcification. Intravascular ultrasound (IVUS) demonstrated concentric high-echoic wall thickening without acoustic shadowing, consistent with mineralized elastic lamina rather than atherosclerosis. A stentless drug-coated balloon strategy was chosen. At 10 months, she was asymptomatic with sustained left anterior descending artery patency by scheduled angiography. DISCUSSION: This is the first reported IVUS-guided chronic total occlusion recanalization in a pediatric PXE patient, illustrating how intravascular imaging can characterize disease biology and guide individualized device selection. TAKE-HOME MESSAGES: In children with unexplained exertional symptoms and skin lesions, PXE should be considered. When IVUS identifies a nonatherosclerotic substrate, a stentless strategy may preserve vessel growth potential.