ArticleFrontiers in genetics2025
Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.Forensic science, medicine, and pathology · 2026Review
- Blue Rubber Bleb Nevus Syndrome with a Novel PDGFRA Variant and Comorbid Autism Spectrum Disorder: A Case Report.Children (Basel, Switzerland) · 2026Article
- Refractory Blue Rubber Bleb Nevus Syndrome in an Adult: Limitations of Endoscopic Therapy and Sirolimus.ACG case reports journal · 2026Article
- When lesion-directed therapy is not enough: blue rubber bleb nevus syndrome in a young adult-a case report.Frontiers in pediatrics · 2026Article
Corrections and comments
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Authors and funding
5 authors.
Funding
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Abstract
Blue Rubber Bleb Nevus Syndrome (BRBNS) (OMIM %112200), or Bean syndrome, is an infrequent disorder characterized by venous malformations (VaMs) involving various organs such as the skin and gastrointestinal tract. Genetic mutations that affect the proliferation, migration, adhesion, differentiation, and survival of endothelial cells and the integrity of the extracellular matrix may be the pathogenesis of these disorders. We are supposed to investigate the cytogenetic results of BRBNS and report two sporadic cases. Two unrelated cases with BRBNS were from the Affiliated Hospital of Qingdao University and the First Affiliated Hospital of the University of South China, respectively. The data collection included information on the current age, sex, and race of the individuals, as well as their chief complaint. Clinical and family history, physical and laboratory findings, diagnostic workup, results, treatment, and complications were all documented. We are supposed to investigate the cytogenetic results of BRBNS and report two sporadic cases. We identified TEK missense mutations (c.596A>C) in both participants with BRBN. In addition, the mutation has appeared in
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