Abstract
Mosaic and segmental overgrowth syndromes have historically been difficult to delineate and diagnose due to clinical heterogeneity. More recently, the ability to characterize the underlying somatic mutation has helped reclassify these disorders. Several distinct but overlapping conditions and benign lesions have been noted to contain mutations in the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene, leading to overgrowth.1 We present the case of an adult with an uncommon segmental overgrowth disorder with hemifacial overgrowth, linear epidermal nevus, and mucosal neuromas with activating somatic mutations in PIK3CA.
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