Facial infiltrating lipomatosis
Ultra-rare congenital hemifacial overgrowth from PIK3CA mutation.
Facial infiltrating lipomatosis (FIL) is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene. It is part of the PIK3CA related overgrowth spectrum (PROS) and is congenital and non-hereditary. The condition is notable for causing hemifacial overgrowth of both soft and hard tissue, noticeable at birth by asymmetrical cheeks.
Quick Facts
- Synonym
- Congenital infiltrating lipomatosis of the face
- Cause
- genetic mutation of the PIK3CA gene
Facts from the source article.
Cause
Facial infiltrating lipomatosis is caused by a new, non-inherited mutation in the PIK3CA gene that occurs in only some cells. This missense mutation swaps one DNA nucleotide, changing a single amino acid in the resulting protein. The alteration gives the protein a gain-of-function, making it overly active. PIK3CA is part of the PI3K-AKT/mTOR pathway, which controls cell growth, survival, angiogenesis, and proliferation.
Treatment
There is no cure for FIL or PROS. Management typically involves multiple debulking surgeries and/or drug treatment. Complete excision is often impossible due to infiltrating fat in important facial structures, and there is a high risk of regrowth after resection. Drug options include an off-label mTOR inhibitor, a pan AKT inhibitor currently in the MOSAIC clinical trial, and a PIK3CA inhibitor available only through a compassionate use program for eligible patients.
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