Chapter 118

Vascular Malformations

Laurence M. Boon

Laurence M. Boon

Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint Luc, University of Louvain, Brussels, Belgium

Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium

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Miikka Vikkula

Miikka Vikkula

Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium

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First published: 20 November 2019
Citations: 4

Summary

Vascular malformations are caused by developmental errors that occur in utero. They can be localized or diffuse and occur in any body part, including the viscera. Some are inconsequential, whereas others cause cosmetic problems, functional disability or threaten life. Clinical features permit diagnosis in about 90% of superficial vascular malformations in paediatric patients. Radiological imaging is rarely necessary for diagnosis; it is needed to delineate the malformation, detect an associated anomaly and determine therapy. Interdisciplinary collaboration is necessary not only for diagnosis, but also for treatment. Mutations have been found in several familial and, more recently, in sporadic types of vascular malformations. This offers hope for new forms of treatment.

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