Disorders Affecting Cutaneous Vasculature

Anne Dompmartin, Nicole Revencu, Laurence M. Boon, Miikka Vikkula


Skin is rich in blood and lymphatic vessels. These can undergo abnormal development generating localized lesions, which are called vascular anomalies. On the basis of clinical and biological criteria, they are divided into vascular tumours and vascular malformations. This classification has been adopted by the International Society for the Study of Vascular Anomalies and used to cover all reported entities. The identification of disease‐causing genes associated with precise clinical delineation of the phenotypes has become the foundation for better management of these diseases. It has been established that the rare familial forms follow a paradominant inheritance with a combination of a germinal mutation and a local somatic second‐hit, whereas somatic/mosaic genetic defects cause the more common sporadic vascular malformations. Links between phenotypes and genotypes have been unravelled for several vascular malformations.
Keywords vascular anomaly, malformation, capillary, venous, lymphatic, arteriovenous, syndrome, mutation, lymphoedema, genetic


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