About FIL

Overview


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:


  • Facial assymetry with one cheek being prominantly bigger. The fat is infiltrating with no clear separation from the adjacent tissue (unencapsulated).
  • Enlargement (hypertrophy) of the facial skeleton including teeth.
  • Early eruption of deciduous and permanent teeth
  • The parotid and submandibular gland including accessory tissue is larger.
  • Overgrowth condition in the skin on the affected side.
  • Increased adipose tissue behind the orbital and the pterygopalatine fossa.
  • Reduced vision (amblyopia) in the eye on the affected side.
  • Overgrowth of the ear.
  • Oral growths (mucosal neuromas)
  • Blush in the skin (cutaneous capillary blush)
  • Overgrowth of half of the tongue (ipsilateral macroglossia)
  • Overgrowth of half of the brain (hemimegalencephaly). This may also cause epileptic seizures.


Not all patients with FIL have all these symptoms.


Diagnosis

A diagnosis of FIL can be based solely on clinical observations. Magnetic Resonance Imaging (MRI) provides the best delineation.


Cause

A mosaic mutation in the PIK3CA gene have been identified as a cause for FIL. Mosaic meaning that the mutation is not in every cell. Several overgrowth conditions have also been found to have mutations in the PIK3CA gene. FIL and these conditions are gathered in the collective term PIK3CA Related Overgrowth Spectrum (PROS). The mutation arises in a cell during embryogenesis.


Cancer risk

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.


Treatments

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.


Congenital Infiltrating Lipomatosis of the Face
Congenital Infiltrating Lipomatosis of the Face
Congenital Infiltrating Lipomatosis of the Face
Congenital Infiltrating Lipomatosis of the Face

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.

No images on this website may be used or reproduced.


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