Facial infiltrating lipomatosis

From WikiMD's Wellness Encyclopedia


[[File:|250px|]]
Synonyms N/A
Pronounce
Specialty
Symptoms
Complications
Onset N/A
Duration
Types N/A
Causes N/A
Risks N/A
Diagnosis N/A
Differential diagnosis N/A
Prevention N/A
Treatment N/A
Medication N/A
Prognosis N/A
Frequency N/A
Deaths N/A


Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the face or facial infused lipomatosis, is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene.[1] The condition is a part of the PIK3CA related overgrowth spectrum (PROS).[2] The disease is congenital and non-hereditary. First described by Slavin and colleagues in 1983.[3]

For this disease the mutation causes overgrowth of half of the face (hemifacial). It affects both soft and hard tissue (facial skeleton). The condition is noticeable at birth by the asymmetrical cheeks, with one cheek being prominently larger than the other.[4]

Signs & symptoms[edit | edit source]

Congenital hemifacial enlargement in which mature lipocytes invade adjacent tissue. Phenotypic features include soft-tissue and skeletal hypertrophy and regional macrodontia. The manifestation are variable ranging from mild to severe. The overgrowth is typically present at birth. The most common features, all features on only one affected side of the face, are:[5][4]

Not all patients with facial infiltrating lipomatosis have all these symptoms.

Cause[edit | edit source]

Mutations in the PIK3CA gene have been identified as the cause for facial infiltrating lipomatosis.[6][4] The mutation is de novo and mosaic meaning it's new, not inherited and not occurring in every cell. One of the DNA nucleotides was altered, causing a change in the amino acid put being into the protein, referred to as a missense mutation, and for PROS, this gives an overactivity, "gain-of-function". The gene is a part of PI3K-AKT/mTOR pathway, a pathway crucial to cell growth, survival, angiogenesis and proliferation.

Error creating thumbnail:
Illustration of the PIK3CA Related Overgrowth Spectrum

Treatment[edit | edit source]

There is no cure for FIL/PROS. Management usually consists of multiple debulking surgeries and/or drug treatment. Due to the infiltrating fat in important facial structures complete excision of the overgrowth is often impossible and there is a high risk of regrowth after resection.[4]

The current drug treatment options are either a mTOR inhibitor, a pan AKT (AKT1-2-3) inhibitor or a PIK3CA inhibitor. The mTOR inhibitor is an off-label use, the use of the AKT-inhibitor is currently in a clinical trial[7] (MOSAIC) and the PIK3CA inhibitor is only available through compassionate use program[8] (if one is eligible).

References[edit | edit source]

  1. 4.0 4.1 4.2 4.3
  2. Clinical trial number NCT03094832 for "Study of ARQ 092 in Subjects With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC)" at ClinicalTrials.gov
  3. Clinical trial number NCT04085653 for "Managed Access Program (MAP) to Provide Alpelisib (BYL719) for Patients With PIK3CA-Related Overgrowth Spectrum (PROS)" at ClinicalTrials.gov
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD