Article
Dermatology
M. Helm, C. Goldann, S. Hammer, N. Platz Batista da Silva, M. Wildgruber, A. Deistung, A. Gussew, W. A. Wohlgemuth, W. Uller, R. Brill
Summary: This study retrospectively analyzed MRI data from 370 patients and found genital involvement in 19% of the patients with vascular malformations. Most patients had both internal and external genital involvement, and the majority of patients with visible external signs also had internal involvement.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2022)
Article
Multidisciplinary Sciences
Martin Sterba, Petra Pokorna, Renata Faberova, Blanka Pinkova, Jarmila Skotakova, Anna Seehofnerova, Jan Blatny, Lucia Janigova, Olga Koskova, Hana Palova, Michal Mahdal, Lukas Pazourek, Petr Jabandziev, Ondrej Slaby, Peter Mudry, Jaroslav Sterba
Summary: This study investigated the use of PI3K inhibitor alpelisib in treating patients with vascular malformations harboring TEK or PIK3CA gene mutations. Marked improvements in quality of life and radiological improvement were observed in the majority of patients. The treatment was well-tolerated with minimal toxicity. Overall, this study presents a promising approach for the treatment of vascular malformations with targetable gene mutations.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Alexandra J. Borst, Adrienne M. Hammill, Shelley E. Crary, Thomas W. McLean, Thomas Felton, Julie Blatt
Summary: Vascular malformations (VMs) are rare disorders that have a significant impact on patients' quality of life. Understanding the genetic basis of VM is crucial for treatment, but obtaining genetic testing can be challenging. This study examined the institutional mechanisms and obstacles to genetic testing for VM.
Review
Dermatology
M. L. E. Stor, S. E. R. Horbach, M. M. Lokhorst, E. Tan, S. M. Maas, C. J. M. van Noesel, C. M. A. M. van der Horst
Summary: This systematic review provides a comprehensive overview of known causative mutations in genes in peripheral VMs and discusses the associations between causative mutations and clinical phenotypes. The findings suggest that different causative mutations in various genes contribute to the highly variable clinical characteristics of VMs, highlighting the importance of genotype in diagnostics and classification.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Clinical Neurology
T. Feygin, A. E. Goldman-Yassen, D. J. Licht, J. E. Schmitt, A. Mian, A. Vossough, L. Castelo-Soccio, J. R. Treat, A. Bhatia, A. N. Pollock
Summary: The study found that many pediatric patients with segmental infantile hemangiomas, especially those with hemangioma syndromes like PHACE, had neuroaxial hemangiomas, potentially requiring additional clinical evaluation and management.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Matthew Robert Augustine, Scott Thompson, Garret Powell, Erica Knavel-Koepsel, Daniel Adamo, Emily Bendel, Katelyn Anderson, Haraldur Bjarnason, Megha Tollefson, David A. Woodrum
Summary: This study aimed to evaluate the safety and effectiveness of percutaneous MR imaging-guided laser ablation for the treatment of symptomatic soft tissue vascular malformations in the face and neck. The results showed that most patients experienced symptomatic relief after laser ablation treatment. Overall, this treatment method was found to be safe and effective.
JOURNAL OF VASCULAR AND INTERVENTIONAL RADIOLOGY
(2023)
Article
Dermatology
Milosz Kostusiak, Srinivasen Murugan, Tobian Muir
Summary: Electrosclerotherapy using bleomycin is a promising method for treating vascular malformations, enhancing treatment efficacy and potentially reducing the need for multiple treatment sessions. Most patients treated with this method reported satisfaction with the treatment outcomes.
DERMATOLOGIC SURGERY
(2022)
Review
Biology
Carlos Castillo-Rangel, Gerardo Marin, Karla Aketzalli Hernandez-Contreras, Cristofer Zarate-Calderon, Micheel Merari Vichi-Ramirez, Wilmar Cortez-Saldias, Marco Antonio Rodriguez-Florido, Ambar Elizabeth Riley-Moguel, Omar Pichardo, Osvaldo Torres-Pineda, Helena G. Vega-Quesada, Ramiro Lopez-Elizalde, Jaime Ordonez-Granja, Hugo Helec Alvarado-Martinez, Luis Andres Vega-Quesada, Gonzalo Emiliano Aranda-Abreu
Summary: Vascular malformations in the head and neck region are common and require accurate anatomical, morphological, and functional characterization for selecting proper treatment methods. Imaging plays a crucial role in determining therapeutic approaches.
Article
Medicine, Research & Experimental
Emmanuel Seront, An Van Damme, Catherine Legrand, Annouk Bisdorff-Bresson, Philippe Orcel, Thomas Funck-Brentano, Marie-Antoinette Sevestre, Anne Dompmartin, Isabelle Quere, Pascal Brouillard, Nicole Revencu, Martina De Bortoli, Frank Hammer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon
Summary: Sirolimus has shown high efficacy and good tolerance in the treatment of slow-flow vascular malformations in both children and adults. The treatment resulted in clinical improvement in 85% of patients, with most experiencing efficacy within the first month. Grade 3-4 adverse events occurred in 18% of patients but resolved after treatment interruption.
Article
Radiology, Nuclear Medicine & Medical Imaging
Niloofar Ayoobi Yazdi, Ramin Pourghorban, Mohammad-Mehdi Mehrabi Nejad, Faeze Salahshour, Ali Jafarian, Hadi Rokni Yazdi
Summary: This study confirmed the safety and effectiveness of percutaneous sclerotherapy in the treatment of secondary Budd-Chiari syndrome caused by hepatic venous malformations. Symptoms significantly improved after treatment, with a reduction in lesion volume and an increase in IVC luminal area.
JOURNAL OF VASCULAR AND INTERVENTIONAL RADIOLOGY
(2022)
Article
Urology & Nephrology
Iona Szhafir, Dario Teplisky, Gonzalo Lambert, Nicolas Affranchino, Santiago Weller, Felicitas Lopez Imizcoz, Juan Pablo Corbetta, Sergio Sierre
Summary: Oral sirolimus administered before and after surgical resection of slow-flow vascular malformations in pediatric patients led to significant volume reduction of the lesion, decreased lymphatic leakage during and after surgery, and improved wound healing. Two years after completion of treatment, patients remained asymptomatic with no recurrence of the lesion.
Article
Surgery
Merel L. E. Stor, Max M. Lokhorst, Sophie E. R. Horbach, Danny A. Young-Afat, Tijmen M. Kappen, Naomi M. van Hout, Phyllis Spuls, Chantal M. A. M. van der Horst
Summary: Pain is a common problem in patients with vascular malformations, with approximately half of the patients experiencing pain. Female patients, lesions in the upper or lower extremity, and intramuscular/intraosseous lesions are associated with the presence of pain. Pain negatively impacts the patients' quality of life.
JOURNAL OF VASCULAR SURGERY
(2022)
Article
Surgery
Aleksandra Tuleja, Sarah Bernhard, Gyorgyi Hamvas, Themis-Areti Andreoti, Jochen Rossler, Laurence Boon, Miikka Vikkula, Rafael Kammer, Fabian Haupt, Yvonne Doring, Iris Baumgartner
Summary: This study aims to describe a consecutive series of adolescent and adult patients with vascular malformations and use a multimodal phenotypic approach for diagnosis. The results showed that simple venous malformations were the most common type of CVMs, with pain being the most common clinical symptom. Some patients also presented with growth abnormalities.
JOURNAL OF VASCULAR SURGERY-VENOUS AND LYMPHATIC DISORDERS
(2023)
Article
Dermatology
Justin D. Arnold, Sunjung Yoon, Nidhi Shah, Morgan Byrne, Lukas Kieswetter, Cathryn Sibbald, Irene Lara-Corrales, Neha Kinariwalla, Maria C. Garzon, Mitchell Braun, Sonal D. Shah, Ilona J. Frieden, Nicole Travis, Carmen Liy Wong, Alan N. Snyder, Lara Wine Lee, Erin K. Collier, Marcia Hogeling, Esteban Fernandez Faith, Nicole DeVaul, Anna Yasmine Kirkorian
Summary: This study provides a better understanding of the high-risk features of anogenital hemangiomas and demonstrates that segmental or partial segmental hemangiomas develop within specific anatomical territories.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2023)
Article
Genetics & Heredity
Akifumi Nozawa, Akihiro Fujino, Shunsuke Yuzuriha, Souichi Suenobu, Aiko Kato, Fumiaki Shimizu, Noriko Aramaki-Hattori, Kanako Kuniyeda, Kazuya Sakaguchi, Hidenori Ohnishi, Yoko Aoki, Michio Ozeki
Summary: Recent studies have revealed the importance of the PI3K signaling pathway in the pathogenesis of slow-flow vascular malformations (SFVMs). Genetic analysis may provide insights into the mechanisms involved in SFVM pathogenesis and identify potential therapeutic targets.
JOURNAL OF HUMAN GENETICS
(2022)