PIK3CA-related overgrowth spectrum

PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of rare disorders caused by mosaic, postzygotic activating mutations in the *PIK3CA* gene, leading to hyperactivation of the PI3K/AKT/mTOR signaling pathway Defining clinical manifestations include asymmetric limb and trunk hypertrophy, complex vascular and lymphatic malformations, epidermal nevi, and central nervous system anomalies such as megalencephaly and cortical dysplasia The spectrum unifies several previously distinct cl...

PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of rare disorders caused by mosaic, postzygotic activating mutations in the *PIK3CA* gene, leading to hyperactivation of the PI3K/AKT/mTOR signaling pathway

Typically presenting congenitally or in early childhood, the condition is characterized by disproportionate, segmental, or focal overgrowth that can involve adipose tissue, skeletal structures, skin, brain, and the vascular system Defining clinical manifestations include asymmetric limb and trunk hypertrophy, complex vascular and lymphatic malformations, epidermal nevi, and central nervous system anomalies such as megalencephaly and cortical dysplasia The spectrum unifies several previously dist...

Typically presenting congenitally or in early childhood, the condition is characterized by disproportionate, segmental, or focal overgrowth that can involve adipose tissue, skeletal structures, skin, brain, and the vascular system