Vascular Birthmarks: Vascular Malformations and Haemangiomas

Abstract

Within the group of vascular malformations (Table 103.1), the capillary malformations (CM), more commonly known as port wine stains, are the most frequently occurring and have the highest epidemiological profile. They are characterised by the presence of capillary anomalies at the level of the papillary and reticular regions of the dermis: the vessels are permanently dilated, giving rise to the typical skin colouration that can vary from pale red to deep purple. They are present at birth in 0.3 % of newborns with an equal distribution between the two sexes. The extent of the CM can vary from a few millimetres to over 50 % of the body surface, affecting almost any somatic region, although port wine stains occur most frequently on the head and neck. When they occur on the face, over 50 % of the CMs affect only one of the three cutaneous areas corresponding to the sensory branches of the trigeminal nerve. Clinical diagnosis is normally straightforward with a skin biopsy only rarely necessary for confirmation. CMs do not regress but grow according to the somatic development of the individual, and over the years, the surface becomes darker and subject to such phenomena as thickening and nodular hypertrophy (cobbling). In adulthood these phenomena may cause significant clinical conditions, with the increased disfigurement leading to psychological damage and sometimes very marked functional disorder. Even less clinically significant cases are capable, from early infancy, of producing negative effects on a child’s cognitive, social and psychological development with inevitable repercussions in adult life. To this can be added the anxiety and sense of guilt that normally afflict the parents, emotional factors that can complicate problems of family equilibrium to the extent that this pathology can be considered a condition that is not limited to a merely aesthetic issue. For these reasons, requests for treatment are becoming ever more numerous, particularly now that the proliferation of new communications media makes it easier to access detailed information about the technological solutions available and the clinical issues that accompany them. It is known that this condition is associated with some syndromes (see Table 103.2), the most well known and frequently occurring is Sturge-Weber syndrome, which can be observed in particular in patients with a port wine stain affecting the part of the skin corresponding to the first branch (V₁) of the trigeminal nerve.