Skin and Soft Tissue Injuries in Congenital Vascular Malformations

Abstract

Congenital vascular malformation (CVM) refers to malformed vessels resulting from arrested development during various stages of embryogenesis and presents in about 1.5% of the population (Belov, 1989; Malan & Pulionisi, 1965; Villavicencio et al, 2002). The CVMs may originate from multiple vascular systems, including arterial, venous, and lymphatic, and represent as either a predominant form (e.g., arterial malformation) or as a mixed condition (venolymphatic malformation). As such, CVM has various clinical manifestations depending on vascular structural architecture, involved site(s), and type of malformed vessels present. In general, most CVMs are sporadic, but some are heritable in an autosomal dominant fashion (Arneja & Gosain, 2008). In spite of advances in the field of vascular biology, the pathogenesis, natural history, and treatment principles of CVMs have yet to be understood or developed. Occasionally, CVMs can be confused with infantile hemangiomas (Figure 1). Even though both anomalies represent cutaneous vascular manifestations, their histologic findings and clinical courses are completely different. Most hemangiomas appear at birth, are self-limited, and resolve spontaneously before 12 years of age. However, CVMs may be identified at birth, progress during childhood, and never regress during the lifespan (Figure 1). Clinical manifestations of the CVM are determined by its embryologic characteristics, especially the stage of embryogenesis in which development was arrested. Thus, it represents a wide range of clinical symptoms from a simple birthmark to a life-threatening condition (Lee, 2005). A small, localized venous malformation may cause a simple cosmetic problem such as a birthmark; however, a diffuse type of arteriovenous malformation in a major organ may result in a life-threatening condition, such as congestive heart failure, intractable bleeding, or airway obstruction, in addition to serious disfigurement. Despite diagnostic advances over the last three decades, it is very difficult to diagnose the CVM for a sole physician because the CVM may involve multiple vascular systems and manifest variable clinical presentations. Therefore, multidisciplinary collaboration of physicians from special departments is necessary for accurate diagnosis and successful treatment of CVM.