The signs and symptoms of PIK3CA
-related overgrowth spectrum (PROS) vary depending on the particular disorder each person has. for example:
is associated with fatty (lipomatous
) growths that typically affect the trunk; blood vessel differences (vascular malformations
); patches or growths on the skin (epidermal nevi
); and differences in the bones (skeletal system). Skeletal abnormalities can include a curve in the spine (scoliosis
) and having very large fingers or toes (macrodactyly
). Fibroadipose hyperplasia
typically has signs and symptoms that are very similar to those of CLOVES syndrome.
Megalencephaly-capillary malformation syndrome (MCAP syndrome)
is associated with having a very large brain (megalencephaly
) or having one half of the brain larger than expected (hemimegalencephaly
). It also causes differences in the smallest blood vessels, called the capillaries
. Megalencephaly can cause symptoms including low muscle tone (hypotonia
, and intellectual disability
. Other features of MCAP syndrome may include having fingers or toes that are fused together (syndactyly
), having extra fingers or toes (polydactyly
), and being very flexible (joint hypermobility
). Some people with MCAP syndrome may have heart anomalies.
Hemihyperplasia‐multiple lipomatosis syndrome (HHML syndrome)
is associated with non-progressive, asymmetrical, moderate overgrowth usually affecting the limbs. It is also associated with slow-growing, painless, subcutaneous lipomatous masses (made up of fat cells
) distributed throughout the body. Vascular malformations may also be present.
Facial infiltrating lipomatosis (FIL)
causes overgrowth and enlargement of one side of the face. It can also cause mucosal neuromas (masses that grow from a nerve), hemimacroglossia (enlargement of half of the tongue), bone enlargement, and premature dental eruption.
Because PROS causes cells of the body to grow and divide more quickly, there is an increased risk of cancer
in people with some forms of PROS. PIK3CA mutations
are frequently found in the tumors
of people without PROS in many cancers including colon, breast, brain, liver, stomach, and lung.