Abstract
This chapter reviews vascular malformations including the common vascular birthmark, nevus flammeus that is usually isolated, fades with time, and is of no clinical significance. The vascular birthmarks associated with complex segmental overgrowth are reviewed including Klippel Trenaunay syndrome, CLOVES, and the PIK3CA associated disorders. These disorders may sometimes not be evident in newborns although macrocephaly, apparent cutis marmorata, and limb asymmetry may suggest these diagnoses early. Cranial imaging and chronologic follow up help to establish the correct diagnosis. PHACES and SACRAL (LUMBAR) syndromes are distinctive but lack a known genetic cause. New treatment options for the PIK3CA disorders are emerging. The clinical case presentation features an infant with megalencephaly–capillary malformation–polymicrogyria syndrome (MCAP).
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