Skip to main content

Table 1 PROS: PIK3CA-Related Overgrowth Spectrum

From: Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

MCAP (megalencephaly-capillary malformations syndrome)

DMEG (dysplastic megalencephaly)

CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome)

HHML (hemihyperplasia-multiple lipomatosis)

Fibroadipose hyperplasia or Overgrowth (FAO)

Klippel-Trenaunay Syndrome

Fibroadipose Infiltrating Lipomatosis, Seborrheic keratosis (SK), Benign lichenoid keratosis (BLK), Epidermal nevi (EN)