Facial Infiltrating Lipomatosis, also referred to as Congenital Infiltrating Lipomatosis of the Face, CIL-F or Facial Infused Lipomatosis, is an ultra-rare craniofacial overgrowth condition. It is a congenital (born with), non hereditary, condition that causes overgrowth of one half of the face.The manifestation are very variable ranging from mild to severe. The overgrowth is typically present at birth.
FIL was first described in medical literature in 1983 by Slavin and colleagues. About 59 reported cases has been found in literature. The condition seems to affect boths genders equally and is seen among different ethnicities.
Signs & symptoms
The most common features, affecting only one side of the face, are:
Not all patients with FIL have all these symptoms.
A diagnosis of FIL can be based solely on clinical observations. Magnetic Resonance Imaging (MRI) provides the best delineation.
Mutations in the PIK3CA gene have been identified as a cause for FIL. Several overgrowth conditions have also been found to have mutations in the PIK3CA gene. FIL and these conditions are thus a part of the PIK3CA Related Overgrowth Spectrum (PROS). PIK3CA is a protein in the PI3K-AKT/mTOR pathway. The mutation arises in a cell during embryogenesis.
With this genetic mutation there is said to be an increased risk of certain types of cancer. Abdomonal ultrasound every 3 months until age 8 years is recommended.
Management involves surgical resection and liposuction of the tissue, however due to the infiltrating fat in vital structures (including facial nerve) complete excision of the overgrowth is often impossible and there is a high risk of regrowth after resection. Mutated PIK3CA is also found in some types of cancer and there are ongoing clinical trials with using cancer mediactions in treating PIK3CA related overgrowth conditions. Please see the links section for further information.
A combined approach of both surgical and medical intervention could be a future treatment option.
This website is intended to connect families and people with the condition, share experiences, provide information and support. The website is not intended for medical diagnostic use or to replace medical consultation.
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