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After 23 years without knowing what I had, I was diagnosed with Facial Infiltrating Lipomatosis (FIL) in 2017. It took a while for me to understand what my condition means. To make myself better understand, I read research papers, talked with my doctor at HECOVAN (a Dutch expertise centre) and I learned a lot from mothers whose children are affected with the same condition. Below I will give a summary of my findings. Some parts get a bit technical.
INTRO
Facial Infiltrating Lipomatosis is an ultra rare congential – which means it’s present at birth – benign condition belonging to the subgroup of lipomatous tumors. It was first described by Slavin et al. in 1983(1). Till date only a handful of cases have been reported (2). It occurs after the third decade of life (> 1990) and the first case reports including facial lipomatosis only appeared at the turn of the century. The condition involves cheek, buccal sulcus, tongue, lip, floor of the mouth, mental area and parotid gland (3).
COMMON FEATURES OF FIL
The most common features of FIL are present on one side of the face and include:
- Facial assymetry at birth (large swelling/enlargement in the cheek and lip)
- Skeletal overgrowth
- Hemifacial enlargement
- Enlarged tongue (Macroglossia)
- Larger teeth (Macrodontia)
- Early eruption of teeth
- Overgrowth of the ear
- Increased density of the facial hair
- Falling of the eyelid (Ptosis)
- Red or purple blush in the skin, usually after resection (Cutaneous capillary blush)
- Bumps on the tongue (Protuberances)
- Growths on the inside of the mouth (Buccal mucosa)
- High recurrence rate after surgically removal
(4)(5) Not all patients with FIL have all these symptoms. As far as I know, I do not have an enlarged tongue, overgrowth of the ear or increased density of facial hair. I do have all the other findings.
SYNONYMS
The condition is extremely rare and only recently discovered. Over the several years it has been referred to in different ways, including the following names:
- Facial Infiltrating Lipomatosis (FIL)
- Facial Infused Lipomatosis
- Congenital infiltrating lipomatosis of the face (CIL-F)
- Congenital diffuse infiltrating facial lipomatosis (DCIL-F)
I was given the first name: Facial Infiltrating Lipomatosis (FIL) which I will be using in all my communication.
CAUSES AND HEREDITARY
FIL is caused by a mutation in a gene called PIK3CA which is involved in controlling the way cells and tissue grow (6). These mutations arise in the womb while a baby is developing. As just one cell is affected at this time, only some parts of the body are affected, whilst other parts grow normally. The genetic mutation occurs because the cell makes a mistake in copying DNA when dividing. Thus far there are no known factors that would make these mutations more likely occur. It’s nonhereditary and occurs random. The chance that my baby will have this condition is as small as anyone else.
PIK3CA-related overgrowth spectrum (PROS)
Mutations in the PIK3CA gene are rare and have previously been reported in cancers and some other overgrowth disorders (7). Together all overgrowth disorders caused by the PIK3CA mutation are called PROS. FIL is part of the PROS family of diseases. Other subs of PROS are:
- Macrodactyly
- Hemihyperplasia Multiple Lipomatosis (HHML)
- Fibroadipose overgrowth (FAO)
- Muscle Hemihypertrophy
- CLOVES
- Megalencephaly – Capillary Malformations (MCAP)
- and some skin disorders
> Read more about ‘tackling rare genetic diseases that aren’t inherited’
GETTING DIAGNOSED
FIL can be diagnosed with CT and MRI (4). The PIK3ca mutation an be confirmed with a cheek swab, biopsy and molecular genetic testing. Genetic testing is hard and can show negative results the first few times, because even in affected tissue the percentage of cells with the PIK3CA mutation may still be low. Most people have to get tested multiple times till the results comes back positive.
TREATMENTS
The treatment options available are excision or liposuction mainly for cosmetic reasons. However, due to its diffuse infiltration and involvement of important facial structures, complete surgical excision is often impossible (4) and even worsening the capillary stain (8). Patients should be informed about high rate of recurrence and increase risk of complications with any subsequent surgery (9)
Kamal et al. echoing the thoughts of Van Wingerden et al., believe that no surgical procedures should be performed until the end of the facial growth period and mention that waiting with definitive surgery has other advantages such as minimising the chance of damage to the facial nerve, decreasing the total number of procedures and postponement may make the procedure more extensive. Padwa and Mulliken believe growth hormones may have a role in recurrences. Any mass reduction before the end of adolescence is likely to fail. (9)
DRUGS
Regarding drugs, there are interesting developments to keep an eye on. There are currently clinical trials with PI3K/AKT/mTOR inhibitors. Chemotherapy drugs such as sirolimus (rapamycin) and everolimus are used for patients with cancer and may have a therapeutic role in patients with FIL (and other overgrowth syndromes) as well (5). However, this drug is still in experimental phase. My doctor told me it is currently only advised to people who have no other option and are in extreme pain.
Update: June 2018 an amazing break-through was published regarding new drugs for people with a PIK3CA mutation.
> Read more about this miracle drug
SPECIALISTS
There are two doctors who are working on the front end of FIL and state they have succesfully treated several FIL-patients. The following information is based on experiences from patient’s who are treated by these doctors.
Dr. Milton Waner, Pediatric Facial plastic surgeon and ENT professor at the Vascular Birthmark Institute in New York, USA.
Dr. Waner is offering a more radical treatment including “radical resections” (removal of the tumor and all the affected tissue) and facial reanimation. This is done with more than 10 big surgeries.
> Read more about Dr. Waner here
Dr. Arin Greene, Plastic and oral surgeon at Boston Childrens Hospital, USA.
Dr. Greene’s approach is debulking and shaving away the cheek bone, further debulking of other areas of the face (under the eye, along the jaw line) and planned scar revision. This involves many big surgeries as well. Dr. Greene is also actively doing research on this condition.
> Read more about Dr. Greene here
DIFFERENTIAL DIAGNOSIS
Differential diagnosis includes
- Proteus syndrome
- Hemifacial hypertrophy
- Encephalocraniocutaneous lipomatosis,
- Hemihyperplasia-multiple lipomatosis syndrome,
- Bannayan–Riley–Rulvacaba syndrome
- Vascular malformations (hemangioma)
(3) With FIL being so rare and newly discovered, people are often given a wrong diagnosis. When I was younger, they mentioned other diagnosis to me as well: Proteus syndrome, Bannayan Riley syndrome and Cowden syndrome.
LITERATURE
- Slavin SA, Baker DC, Mccarthy JG, Muffarrij A. Congenital infiltrating lipomatosis of the face: Clinicopathological evaluation and treatment. Plast Reconstr Surg. 1983;72:158–64.
- Balaji SM. Congenital diffuse infiltrating facial lipomatosis. Ann Maxillofac Surg. 2012;2(2): 190–196.
- Urs AB, Augustine J, Kumar P, Arora S, Aggarwal N, Sultana N. Infiltrating lipomatosis of the face: A case series. J Nat Sci Biol Med. 2013;4(1): 252–257.
- Mahadevappa A, Raghavan VH, Ravishankar S, Manjunath GV. Congenital Infiltrating Lipomatosis of the Face: A Case Report. Case Reports in Pediatrics. 2012;article ID 134646.
- Maclellan RA1, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC. PIK3CA activating mutations in facial infiltrating lipomatosis. Plast Reconstr Surg. 2014;133(1):12e-9e.
- Segmental Overgrowth Study (webpage)
- Maclellan RA1, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC. PIK3CA activating mutations in facial infiltrating lipomatosis. Plast Reconstr Surg. 2014;133(1):12e-9e.
- Padwa BL1, Mulliken JB. Facial infiltrating lipomatosis. Plast Reconstr Surg. 2001 Nov;108(6):1544-54.
- Singh K, Sen P, Musgrove BT, Thakker N. Facial infiltrating lipomatosis: A case report and review of literature. Int J Surg Case Rep. 2011; 2(7): 201–205.