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.
Article
Medicine, General & Internal
Adam Ustaszewski, Joanna Janowska-Glowacka, Katarzyna Wolynska, Anna Pietrzak, Magdalena Badura-Stronka
Summary: This article introduces a selection of congenital disorders related to the development of the vascular system, distinguishing between heritable germinal and sporadic somatic mutations as causes. Clinical features, genetic background, and comprehensible description of molecular mechanisms are provided for each entity.
ARCHIVES OF MEDICAL SCIENCE
(2021)
Review
Pharmacology & Pharmacy
Julie Blatt, Jennifer E. Brondon, Elizabeth L. Nieman, Kynlon Phillips, Arti Pandya
Summary: Vascular anomalies are developmental abnormalities of veins, arteries, lymphatics, or capillaries caused by mutations in genes involved in angiogenesis. The current treatments targeting these genes are limited. This study reviewed the literature to identify medications with antiangiogenic activity from conventional and traditional medicine, and found fewer than 50 drugs that showed credible human activity in treating vascular anomalies. Further research is needed to explore the potential of these drugs for repurposing.
PHARMACOLOGY & THERAPEUTICS
(2023)
Review
Dermatology
P. H. Hoeger
Summary: Vascular malformations are caused by localized defects in vascular development and are influenced by various factors, leading to complex genotype-phenotype correlations. The differential diagnosis of VM is challenging, except for diseases with pathognomonic phenotypes, but increasing sequencing techniques will facilitate this process. Targeted pharmacotherapy shows promise for the treatment of VM patients.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2021)
Article
Peripheral Vascular Disease
Elisa Boscolo, Patricia Pastura, Sandra Schrenk, Jillian Goines, Rachael Kang, Devin Pillis, Punam Malik, Timothy D. Le Cras
Summary: This study demonstrates that somatic mutations in NRAS can drive abnormal angiogenesis in human endothelial cells. The researchers developed in vitro and in vivo models to identify disease-causing pathways and test inhibitors. Treatment with a MAP kinase inhibitor prevented the abnormal changes caused by the NRAS(Q61R) mutation.
Article
Oncology
Katherine D. Watson, Kyung R. Kim, Julie Blatt
Summary: Vascular anomalies can occur independently or as part of syndromes. Through case analysis, we explored the clinical, radiographic, pathologic, and genetic basis for diagnosis, and emphasized the importance of a multidisciplinary approach to care.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Cell Biology
Shuang Xue, Qiuyu Liu, Yuewu Zhao, Lingfei Kong, Fangfang Fu, Yubin Gong, Xiaonan Guo, Changxian Dong, Meiyun Wang
Summary: This study aimed to report the pathological features and somatic PIK3CA mutations associated with Fibroadipose vascular anomaly (FAVA). Cases were identified by reviewing the lesions resected from patients with FAVA and unusual intramuscular vascular anomalies. FAVA is a complex vascular malformation composed of anomalous vascular components intertwined with mature adipocytic and dense fibrous tissues, and it is associated with somatic PIK3CA mutations. Its recognition is fundamental for clinical/prognostic implications and targeted therapy.
Article
Oncology
Alexandra J. Borst, Rachel F. Swerdlin, James D. Phillips, C. Matthew Hawkins, Michael A. Briones
Summary: The care of patients with vascular anomalies is becoming increasingly complex, requiring high-quality and coordinated multidisciplinary care. This article reviews the history of multidisciplinary care in this field, discusses the advantages of this care model, and outlines the essential components and structure of a successful vascular anomalies team. It also provides an overview of two example programs and a roadmap for other centers to develop their own multidisciplinary vascular anomalies teams.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Surgery
Huaijie Wang, Chong Xie, Weilong Lin, Jinbang Zhou, Weijia Yang, Zhengtuan Guo
Summary: This study reports an innovative endoscopic surgery for subcutaneous vascular malformations and intramuscular fibro-adipose vascular anomaly. The endoscopic surgery is a minimally invasive, effective, and safe treatment that can minimize wound complications and reduce recovery time in patients.
Article
Biochemistry & Molecular Biology
Andrea Diociaiuti, Roberta Rotunno, Elisa Pisaneschi, Claudia Cesario, Claudia Carnevale, Angelo Giuseppe Condorelli, Massimo Rollo, Stefano Di Cecca, Concetta Quintarelli, Antonio Novelli, Giovanna Zambruno, May El Hachem
Summary: This study investigates the clinical and molecular features of patients with sporadic vascular malformations (VMs) and identifies mutations associated with different types of VMs. The findings expand the understanding of sporadic VMs and highlight the importance of genetic testing for accurate diagnosis and emerging therapies.
Review
Dentistry, Oral Surgery & Medicine
Jeffrey Dorrity, Joana Mack, Kevin Wong, Gresham T. Richter
Summary: Vascular anomalies are common in children and can be effectively controlled with a comprehensive treatment plan, preserving function and aesthetics.
JOURNAL OF ORAL PATHOLOGY & MEDICINE
(2022)
Article
Dermatology
Tomasz Hawro, Katarzyna Przybylowicz, Max Spindler, Marlena Hawro, Michal Stec, Sabine Altrichter, Karsten Weller, Markus Magerl, Ulrich Reidel, Ezzat Alarbeed, Ola Alraboni, Marcus Maurer, Martin Metz
Summary: The study reviewed 70 patients with high-flow vascular stains (HFVS), finding that they were typically flat, warm to the touch, red or pink in color, with well-defined borders and regional soft tissue swelling. Head and neck location was most common, and changes in color and border demarcation could develop over time.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2021)
Article
Dermatology
Eloise R. Galligan, Eulalia Baselga, Ilona J. Frieden, Nicole W. Kittler, Christine T. Lauren, Kimberly D. Morel, Catherine McCuaig, Elena Pope, Megha Tollefson, Kimberly Tantuco, Orli Wargon, Maria C. Garzon
Summary: High-flow vascular stains (HFVS) are lesions associated with increased arterial flow, characterized by warmth to touch, heterogeneous color saturation, and well-defined borders. The distinction between HFVS and port wine stains can be made based on the development of darker color, increased border demarcation, and soft tissue overgrowth.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2021)
Article
Genetics & Heredity
Vanessa Franziska Schmidt, Ilse Wieland, Walter A. Wohlgemuth, Jens Ricke, Moritz Wildgruber, Martin Zenker
Summary: The article presents a case of a 3-year-old boy with segmental overgrowth of subcutaneous fatty tissue and various vascular malformations in the right lower extremity. Tissue biopsies revealed a mosaic KRAS variant, supporting the idea of wide clinical and phenotypic variability associated with mosaic RAS variants. This highlights the importance of accurate genetic diagnosis for potential molecular-targeted therapy in mosaic RASopathies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Pediatrics
Frederic J. Bertino, C. Matthew Hawkins
Summary: Vascular malformations are congenital anomalies that result from disorganized angiogenesis, often caused by spontaneous somatic genetic mutations. The management of these malformations requires a multidisciplinary approach, offering patients a range of medical, surgical, and percutaneous treatment options, along with supportive care. This manuscript provides a discussion on the standard and contemporary management strategies for extracranial vascular malformations and overgrowth syndromes.
PEDIATRIC RADIOLOGY
(2023)
Article
Pediatrics
Rebecca R. Seltzer, Simone Thompson
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
Article
Pediatrics
Kimberly E. Sawyer, Douglas J. Opel
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
Article
Pediatrics
Micah Hester, Skye A. Miner
Summary: The process of soliciting a minor's assent has moral importance, even if it is not always required by regulations. It allows the child's opinion to be heard and respects their development and involvement in research. The extent of the child's involvement depends on their age, experience, and maturity.
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
Article
Pediatrics
Nicholas A. Jabre, Margaret R. Moon
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
Article
Pediatrics
Carrie M. Henderson, Renee D. Boss
Summary: An increasing number of children with serious/complex illness are living with long-term prognostic uncertainty, intensive interactions with medical systems, functional limitations, and the use of chronic medical technologies that affect their quality of life. These families often face multiple medical decision points and rely on intentional and iterative discussions to guide their care goals.
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
Article
Pediatrics
Margaret R. Moon
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
Article
Pediatrics
Mark T. Hughes
PEDIATRIC CLINICS OF NORTH AMERICA
(2024)
