• Coronary artery calcium scoring with tin filtration reduces radiation dose by 78%. • There is excellent correlation between high-pitch Sn100kVp and standard 120kVp acquisitions. • Excellent agreement regarding Agatston score categories and percentile-based risk categorization was achieved. • No cardiac risk reclassifications were observed using Sn100kVp coronary artery calcium scoring.
FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.
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