2026-06-15 | Chronic Total Occlusion Recanalization in a 14-Year-Old Girl With Pseudoxanthoma Elasticum: IVUS-Guided Stentless Strategy.
Pseudoxanthoma elasticum (PXE) is a hereditary disorder causing progressive arterial mineralization that may cause premature coronary disease in children. 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. 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. 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.
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2026-06-10 | Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature.
A 44-year-old woman with classic cutaneous manifestations of nonfamilial PXE presented with multiple 3 to 10 mm yellowish papules coalescing into well-demarcated, cobblestone-like plaques. Previous ophthalmologic evaluation revealed retinal angioid streaks, while no cardiovascular involvement was reported. PXE is a rare multisystem disorder associated with significant morbidity, requiring a multidisciplinary approach to optimize patient outcomes and quality of life. Cutaneous involvement usually represents the initial manifestation of the disease; therefore, accurate recognition of these lesions may facilitate prompt diagnosis and prevent further complications. Advances in the understanding of the underlying molecular pathways open the possibility for the development of novel therapeutic strategies, which may improve patient prognosis and potentially modify the natural history of the disease.
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2026-05-30 | Ophthalmologic Complications of Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum [PXE] is a rare multisystem genetic disorder characterized by progressive calcification of elastic fibers affecting primarily the skin, cardiovascular system, and eyes. Ophthalmologic involvement, mainly represented by angioid streaks and choroidal neovascularization [CNV], is a major cause of visual impairment in young patients. We report the case of a 54-year-old woman with clinically and histologically confirmed pseudoxanthoma elasticum who presented with progressive bilateral visual loss. Fundus examination revealed bilateral angioid streaks associated with a “peau d’orange” appearance and fibrotic macular changes. Multimodal imaging including fluorescein angiography, optical coherence tomography [OCT], and OCT angiography [OCT-A] demonstrated inactive cicatricial choroidal neovascularization complicating angioid streaks. Management consisted of close monitoring and intravitreal anti-VEGF injections administered on a pro re nata [PRN] basis. Ophthalmologic complications of PXE mainly result from calcification and fragility of Bruch’s membrane. Anti-VEGF therapy is currently considered the standard treatment for PXE-associated CNV, allowing anatomical and functional stabilization in most cases. However, long-term evolution remains marked by the risk of neovascular recurrence and progressive macular atrophy. Novel therapeutic approaches targeting calcification pathways and underlying genetic abnormalities are currently under investigation. Ophthalmologic complications of PXE represent an important cause of visual loss. Regular follow-up based on multimodal imaging and early management of choroidal neovascularization are essential to improve visual prognosis. Targeted therapies and gene therapy represent promising future perspectives.
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