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Keywords = capillary malformation-arteriovenous malformation (CM-AVM)

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9 pages, 924 KiB  
Case Report
Urinary Bladder Hemangioma Successfully Treated by Angioembolization with Long-Term Follow-Up: Case Report and Literature Review
by Omar Safar, Abdulhadi Al-Qahtani and Saad Al-Qahtani
Diagnostics 2023, 13(5), 875; https://doi.org/10.3390/diagnostics13050875 - 25 Feb 2023
Cited by 2 | Viewed by 2648
Abstract
Hemangiomas are benign blood vessel and capillary tumor growths which are widespread in many organs but extremely rare in the bladder, making up just 0.6% of all bladder tumors. To the best of our knowledge, few cases of bladder hemangioma are associated with [...] Read more.
Hemangiomas are benign blood vessel and capillary tumor growths which are widespread in many organs but extremely rare in the bladder, making up just 0.6% of all bladder tumors. To the best of our knowledge, few cases of bladder hemangioma are associated with pregnancy in the literature, and no bladder hemangiomas have been discovered incidentally after abortion. The use of angioembolization is well established; however, postoperative follow-up is crucial to identify tumor recurrence or residual disease. Case presentation: In 2013, a 38-year-old female was referred to a urology clinic with an incidental finding after an abortion of a large bladder mass identified incidentally using ultrasound (US). The patient was recommended for CT, which reported a polypoidal hypervascular lesion, as previously described arising from the urinary bladder wall. Diagnostic cystoscopy showed a large, bluish-red, pulsatile, vascularized submucosal mass with large dilated submucosal vessels, a wide-based stalk, and no active bleeding in the posterior wall of the urinary bladder, measuring about 2 × 3 cm, with negative urine cytology. Due to the vascular nature of the lesion and no active bleeding, the decision was made not to biopsy. The patient underwent angioembolization and scheduled for US every six months with regular diagnostic cystoscopy. In 2018, at 5 years of follow-up, the patient developed recurrence after a successful pregnancy. The angiography revealed recanalization of the previously embolized left superior vesical arteries from the anterior division of the left internal iliac artery, resulting in arteriovenous malformation (AVM). The second angioembolization was performed, with the total exclusion of AVM without residual. By the end of 2022, the patient had remained asymptomatic and without recurrence. Conclusion: Angioembolization is a safe treatment technique, minimally invasive, and has less effect on the quality of life, especially in young patients. Long-term follow-up is essential for detecting tumor recurrence or residual disease. Full article
(This article belongs to the Special Issue Advanced Diagnostic and Interventional Radiology in Urology)
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13 pages, 6051 KiB  
Article
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
by Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi and Livia Garavelliadd Show full author list remove Hide full author list
Genes 2023, 14(3), 549; https://doi.org/10.3390/genes14030549 - 22 Feb 2023
Cited by 9 | Viewed by 4883
Abstract
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in [...] Read more.
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same RASA1 variant. Full article
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