PIK3CA-related overgrowth spectrum (PROS)

PIK3CA-related overgrowth spectrum (PROS) is a group of rare conditions that cause overgrowth of various parts of the body due to mutations in the PIK3CA gene. PROS is progressive and symptoms can be present at birth or develop in early childhood. In PROS conditions, malformations may be seen in several different areas of the body, including the lymphatic and vascular systems, bones, fat, and central nervous system, depending on the specific PROS condition. Overlap between conditions can be seen. The degree of severity can range from mild to severe and can cause pain, difficulty with mobility, complications of the blood, loss of function in body systems, and an array of neurological complications.

Specific PROS conditions include, but are not limited to, the following: CLAPO syndrome, CLOVES syndrome, facial Infiltrating lipomatosis (FIL), fibroadipose hyperplasia (FAO/FH), fibro-adipose vascular anomaly (FAVA), hemihyperplasia-multiple lipomatosis syndrome (HHML syndrome), hemimegalencephaly (HME), Isolated Lymphatic Malformations (ILM), Klippel-Trenaunay syndrome (KTS), and megalencephaly-capillary malformation syndrome (M-CM/MCAP). Somepatients are diagnosed with a specific PROS condition, while others receive an umbrelladiagnosis of PROS.

Treatment for a PROS condition may involve multiple surgeries, medical treatment,interventional radiology procedures, special education, and speech and physical therapies.