We describe a 17-year-old boy with capillary malformation-arteriovenous malformation syndrome and a massive vascular malformation of the right chest wall, shoulder, and upper arm. Persistent growth of the malformation caused cutaneous ulcerations and recurrent massive bleeding episodes. We proceeded with a modified shoulder disarticulation preceded by ligation of the subclavian artery and innominate vein by median sternotomy. After a staged debulking resection of the residual chest wall arteriovenous malformation with rotational transverse rectus abdominis myocutaneous flap coverage, the patient was discharged home safely. This report demonstrates that a multidisciplinary approach is critical for management of life-threatening complications in capillary malformation-arteriovenous malformation patients.
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http://dx.doi.org/10.1016/j.jvsv.2020.07.001 | DOI Listing |
Int J Dermatol
January 2025
INSERM UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Université de Bourgogne Franche-Comté, Dijon, France.
J Dermatol
November 2024
Department of Dermatology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.
Capillary malformation-arteriovenous malformation (CM-AVM) is a genetic condition predominantly attributed to variations in the RASA1 or EPHB4 genes. We identified three genetic variations: a variation in the RASA1 (c.2603+1G>A) and two novel variations in the EPHB4 (c.
View Article and Find Full Text PDFClin Case Rep
November 2024
Department of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.
Key Clinical Message: Not only germline but also postzygotic mutations in the or genes can lead to capillary malformation-arteriovenous malformation (CM-AVM) syndrome. As it is not always possible to clinically distinguish between constitutional variants and postzygotic mosaicism, a sufficiently high sequencing depth must be used in genetic diagnostics to detect both.
Abstract: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, with or without Parkes Weber syndrome, is a rare autosomal dominant disease caused by pathogenic or variants.
Am J Med Genet A
October 2024
Department of Pediatrics, Division of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations of the skin. This disorder has been described as two distinct entities: CM-AVM1 and CM-AVM2. The diagnosis of these disorders has been associated with pathogenic variants in the RASA1 gene for RASA1-CM-AVM, formerly known as CM-AVM1, and, more recently, the EPHB4 genes for EPHB4-CM-AVM, formerly known as CM-AVM2.
View Article and Find Full Text PDFFront Neurol
September 2024
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
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