Syndromic vascular anomalies: A challenge

Abstract

Vascular anomalies can present both as the dominant or less prominent feature of multisystem syndromes. In this review, we describe some of the more notable disorders. They may arise as a consequence of a sporadic somatic mutation or less frequently, familial germline mutations. We discuss their clinical features focusing on the prominent vascular anomaly (e.g., infantile haemangioma, capillary malformation, venous malformation) as a first diagnostic clue, current understanding of their genetic basis and outline further investigations as well as management. Many of these syndromes present with variable and overlapping features and frequently pose a diagnostic challenge. We aim to highlight important clinical clues to facilitate distinguishing these syndromes and aid in appropriate management.