A capillary malformation on the chest and epidermlal naevus on the arm in PIK3CA mutation (PROS-patient2)
Keywords: PIK3CA gene mutation, PROS, Arm, Capillary malformation, Epidermal naevus, Male, Trunk
PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders caused by somatic mosaic mutations in the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene and characterised by tissue overgrowth and malformations.
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Source: Professor Deshan Sebaratnam
