Background: Venous malformation is related to genes and results in functional and morphologic anomalies. Genetic variations affecting the development of vessel endothelial cells are unclear. Therefore, this study aimed to investigate the potential value of the miR-100 rs1834306 A>G polymorphism as a marker of susceptibility to venous malformation. Methods: In this case–control study in southern Chinese children, we collected blood samples from 1158 controls and 1113 patients with venous malformation. TaqMan genotyping of miR-100 rs1834306 A>G was performed by real-time fluorescent quantitative polymerase chain reaction. Results: Multivariate logistic regression analysis showed that there was no significant association between the presence of the miR-100 rs1834306 A>G polymorphism and susceptibility to venous malformation by evaluating the values of pooled odds ratios and 95% confidence intervals. Similarly, among different sites, rs1834306 A>G was also not associated with venous malformation. Conclusion: Our results suggest that the miR-100 rs1834306 A>G polymorphism is not associated with susceptibility to venous malformation in southern Chinese children. These results need to be further confirmed by investigating a more diverse ethnic population of patients with venous malformations.

Background: Venous malformations (VMs) are a common congenital vascular anomaly. The long non-coding RNA (lncRNA) HOTTIP, associated with the HOXA gene cluster, modulates the expression of multiple HOXA genes, which are crucial for vascular development. Abnormal HOXA expression disrupts normal vascular formation. However, no studies have explored the relationship between HOTTIP single nucleotide polymorphisms (SNPs) and the risk of VMs. This study examined whether SNPs in HOTTIP contribute to the development of VMs and their subtypes. Methods: We conducted a case-control study involving individuals with VMs, collecting blood samples from 1,113 patients with VM and 1,158 healthy controls. TaqMan genotyping of the lncRNA HOTTIP rs3807598 C>G was performed using real-time fluorescence quantitative polymerase chain reaction (PCR) on the Applied Biosystems 7,900HT Fast Real-Time PCR System. Results: Our multivariate logistic regression analysis found no significant correlation between the rs3807598 C>G polymorphism in HOTTIP and VM susceptibility in the general population (P>0.05). Stratification by site of origin revealed that the rs3807598 GG genotype was associated with an increased risk of upper-extremity VMs [adjusted odds ratio (OR) =1.55; 95% confidence interval (CI): 1.002–2.39; P=0.049]. Conclusions: Our study showed that HOTTIP rs3807598 C>G was not associated with VM risk. Further studies are needed to elucidate the interaction between the HOTTIP rs3807598 polymorphism and genetic and environmental factors to reveal its role in the pathogenesis of VM.

Littoral cell angioma (LCA) is a primary vascular tumor originating from the cells lining the sinuses of the red pulp. This case presents a 1-year-old male with thrombocytopenia incidentally detected by ultrasound as an isolated LCA. The tumor was evaluated via ultrasound, computed tomography, and biochemical testing. The patient underwent interventional embolization, with pathological examination confirming LCA diagnosis. Postoperatively, the lesion showed a stable reduction in size, platelet counts normalized, and no complications or recurrence occurred. This case analyzes the clinical, imaging, and pathological features of this rare splenic tumor, aiming to explore the clinical significance of interventional embolization for LCA with thrombocytopenia.

Interventional treatment of iliac intraosseous arteriovenous malformation: a case description