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CASE REPORT
Year : 2018  |  Volume : 11  |  Issue : 5  |  Page : 439-443  

Congenital infiltrating lipomatosis of the face


Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India

Date of Web Publication5-Sep-2018

Correspondence Address:
Nikhil Nair
3B, BK Dutt Colony, Lodhi Road, New Delhi - 110 003
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/MJDRDYPU.MJDRDYPU_144_17

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  Abstract 


Congenital unilateral facial enlargement can be attributed to a host of clinical conditions ranging from lipomatosis, lymphangioma, and vascular malformations to congenital overgrowth syndromes. Congenital infiltrating lipomatosis of the face (CILF) is one among them and is considered as a variant of benign lipomatosis. The exact etiology and pathogenesis are not known. It is characterized by proliferation and infiltration of adipocytes into adjacent muscles and soft tissues along with hypertrophy of underlying bones. Radiological imaging plays a central role in diagnosis as it enables accurate identification of CILF. Magnetic resonance imaging demonstrates the fatty nature of the disease, and computed tomography demonstrates the osseous abnormalities. In this case report, we discuss the case of an 8-year-old female child who presented with facial hemihypertrophy and how the rare diagnosis of CILF was clinched at imaging. The utility of radiological imaging in differentiation of CILF from its close differentials is also discussed.

Keywords: Hemifacial hypertrophy, infiltrating lipomatosis, magnetic resonance imaging


How to cite this article:
Nair N, Ramachandran A. Congenital infiltrating lipomatosis of the face. Med J DY Patil Vidyapeeth 2018;11:439-43

How to cite this URL:
Nair N, Ramachandran A. Congenital infiltrating lipomatosis of the face. Med J DY Patil Vidyapeeth [serial online] 2018 [cited 2019 Sep 18];11:439-43. Available from: http://www.mjdrdypv.org/text.asp?2018/11/5/439/240368




  Introduction Top


All human faces have a natural subtle asymmetry which is not readily apparent to the undiscerning eye. However, a gross exaggeration of this asymmetry, as seen in congenital infiltrating lipomatosis of the face (CILF), can be very unsettling for the patient besides posing challenges in arriving at the correct diagnosis and management strategy. Fewer than 50 cases have been reported in English literature till date underlining the rarity of this disorder.[1]

We report an interesting case of CILF in an 8-year-old female child, with focus on discussing imaging findings on computed tomography (CT) and magnetic resonance imaging (MRI) seen in this unique condition.


  Case Report Top


An 8-year-old female child presented with painless, gradually progressive swelling of the left side of face since birth [Figure 1]. Clinical examination revealed a large soft, nontender infiltrative swelling involving left side of the face. The left half of tongue was massively enlarged and studded with multiple surface nodules. The nose and chin deviated toward the right side with relatively larger left halves of upper and lower lips. Two linear pigmented nevi were seen on lateral aspect of the swelling.
Figure 1: Clinical photograph of the patient showing left hemifacial swelling extending from frontal scalp to submental region. Note gross enlargement of the left half of tongue with multiple small surface nodules representing enlarged papillae

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MRI of the head and neck revealed massive subcutaneous fat proliferation (hyperintense on T1/T2-weighted images with suppression on fat-saturated images) involving left frontal scalp, zygomatic, premaxillary, and submental regions with fatty infiltration into left masticator, parotid, and parapharyngeal spaces [Figure 2]. Heterogeneous fatty infiltration was also noted into left pterygoid, masseter, and temporalis muscles along with parotid and submandibular glands [Figure 3]. Left zygomatic bone, maxilla, and left hemimandible (including their alveolar sockets and teeth) were enlarged with fatty marrow proliferation [Figure 3]. Postcontrast images did not reveal any enhancement within the lesion. MRI brain revealed multiple cerebrospinal fluid signal intensity lesions, suggestive of enlarged Virchow–Robin spaces in deep white matter of the left cerebral hemisphere [Figure 4].
Figure 2: (a) Axial T1-weighted image shows diffuse infiltrative hyperintense lesion infiltrating into left masticator, parapharyngeal, and parotid spaces. Note contiguous infiltration into left masseter (starred) and parotid gland (arrow). (b) T2-weighted fat saturated image at same level as above shows suppression of hyperintense signal (starred), suggestive of fatty nature of infiltrative tissue

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Figure 3: (a). Axial T2-weighted image of the face shows diffuse fatty infiltration within left masseter (straight arrow) and temporalis (upcurved arrow) muscles in sharp contrast to their normal counterparts on the contralateral side (starred). Also, note enlarged left maxillary alveolar process with fatty marrow expansion (down curved arrow). (b) Coronal T2-weighted image shows fatty infiltration within left masseter (long arrow) and temporalis muscles (short arrow) with relative enlargement of left half of tongue (starred)

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Figure 4: Axial T2-weighted image of brain showing multiple enlarged Virchow–Robin spaces in deep white matter of left frontal and parietal lobes (arrows)

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CT corroborated fatty nature of infiltrative lesion with better depiction of underlying osseous hypertrophy in comparison to MRI images [Figure 5]. Relative enlargement of ipsilateral skull base foramen was also well depicted on CT [Figure 6]. Subtle hypertrophy of the left-sided teeth was seen using panoramic reconstruction of dental CT [Figure 7]. Volume rendered reconstruction provided a comprehensive three-dimensional visualization of the hypertrophied facial and skull bones [Figure 8].
Figure 5: Coronal computed tomography section of the face in bone windowing reveals relative hypertrophy of left frontal (thin arrow), zygomatic and sphenoid bones (curved arrow), pterygoid plate (thick arrow), and hemimandible (bracket)

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Figure 6: Axial computed tomography in the bone window mode at level of skull base depicting relative enlargement of foramen rotundum (curved arrow), ovale (thick straight arrow), and spinosum (thin straight arrow) on the left side

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Figure 7: Curved multiplanar reconstruction computed tomography image depicting subtle enlargement of left-sided teeth (bracket) with respect to contralateral side

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Figure 8: Volume reconstruction of the face showing enlargement of left maxilla and hemimandible (starred). Note relatively enlarged mental foramen (straight arrow) on the left side

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  Discussion Top


Recently described by Slavin et al. in 1983 as a separate entity from other lipomatous disorders, CILF is a nonhereditary congenital disorder distinguished by collections of unencapsulated, mature lipocytes showing characteristic infiltration into facial muscles and soft tissues.[2],[3]

Conventionally, CILF has been classified as a subgroup of benign lipomas called infiltrative lipomatosis.[4],[5] It presents at birth or in early childhood with unilateral facial swelling, and majority of the cases are diagnosed within first 2 years of life.[4] The swelling gradually progresses over the years till the age of completion of bone growth. Physical examination findings consolidated from the recent case reports on CILF so far include hemihypertrophy of face with ocular sparing, ipsilateral pigmented cutaneous nevi, oral mucosal lesions, ipsilateral hemimacroglossia, ipsilateral macrodontia, and hypertrophy of tongue papillae – all of which were seen in our case.[6],[7]

Radiological imaging plays the central role in diagnosis as it sieves out CILF from an intriguing mix of clinical conditions causing hemifacial enlargement. CT and MRI are the most useful imaging modalities enabling characterization and delineation of the complete extent of disease which has vital surgical implications.

MRI, with its inherent high spatial resolution, is superior to CT in demonstrating the fatty nature of the disease, specifically fatty infiltration of muscles and soft tissues. The MRI features of lipomatous lesions include homogenous hyperintensity on T1-weighted images with few thin discrete septa, showing minimal or no contrast enhancement; hyperintensity on T2-weighted images with the absence of signal in fat-suppressed images. Thus, MRI reliably rules out lymphatic and vascular malformations/neurogenic tumors. Fatty infiltration of the muscle is seen as areas of T1 hyperintensities within the muscle intermingled with hypointense muscle fibers. Soft tissue and glands infiltrated by fat also show hypertrophy and increased T1 and T2 signal intensities on nonfat-suppressed sequences. The presence of these typical MRI findings obviate the need for biopsy in these patients.[8]

In addition, MRI may reveal associated intracranial abnormalities such as hemimegalencephaly, cerebellopontine angle lipoma, and arachnoid cyst.[9] Enlarged Virchow–Robin spaces, as seen in our case, is a hitherto unreported finding in all previously published literature on CILF so far.

CT has an important role in its ability to demonstrate underlying osseous hypertrophy. The bony changes that occur in CILF are ipsilateral calvarial thickening, zygomatic hyperplasia, and hemimandibular hyperplasia in the form of hyperplasia of condylar process and/or ramus of the mandible along with accelerated dentoskeletal growth.[5] Multidetector CT permits reliable multiplanar and three-dimensional reconstructions which are apt for studying the articulation between facial bones. Panoramic reconstruction technique allows depiction of teeth in a row, evaluation of dental alignment, and relationship of teeth with mandibular canal.

The radiological imaging findings in a few conditions causing hemifacial hypertrophy are summarized in [Table 1]. It is possible to differentiate CILF from other lipomatous tumors too based on radiological findings, thereby obviating the need for tissue diagnosis. A simple check list of finer imaging points is presented in [Table 2] to help clinch the diagnosis of CILF.
Table 1: Imaging findings in clinical entities causing hemifacial hypertrophy

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Table 2: Finer imaging pointers towards CILF vs. clinical mimickers

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Treatment options available are liposuction or excision.[3] Owing to the diffuse and infiltrating nature of the disease, complete surgical excision is often not possible and is unfortunately saddled with high recurrence rates. However, surgery has a role in improving the esthetic appearance of the child.[10] No reports of malignant degeneration have been reported on long-term follow-up.[1],[8] Staged surgery has been planned in the case of our patient.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Rajeswaran R, Murthy J, Chandrasekharan A, Joseph S. Case report: Congenital infiltrating lipomatosis of face. Indian J Radiol Imaging 2008;18:306-9.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Slavin SA, Baker DC, McCarthy JG, Mufarrij A. Congenital infiltrating lipomatosis of the face: Clinicopathologic evaluation and treatment. Plast Reconstr Surg 1983;72:158-64.  Back to cited text no. 2
    
3.
Weiss S, Goldblum J. Enzinger and Weiss's Soft Tissue Tumors. 4th ed. St. Louis: Mosby; 2001. p. 571-641.  Back to cited text no. 3
    
4.
Shenoy AR, Nair KK, Lingappa A, Shetty KS. Congenital infiltrating lipomatosis of face: Case report and review of literature. J Indian Soc Pedod Prev Dent 2015;33:156-60.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
Sahai S, Rajan S, Singh N, Arora H. Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: A case report and review of the literature. Dentomaxillofac Radiol 2013;42:16128745.  Back to cited text no. 5
    
6.
Singh K, Sen P, Musgrove BT, Thakker N. Facial infiltrating lipomatosis: A case report and review of literature. Int J Surg Case Rep 2011;2:201-5.  Back to cited text no. 6
    
7.
Kamal D, Breton P, Bouletreau P. Congenital infiltrating lipomatosis of the face: Report of three cases and review of the literature. J Craniomaxillofac Surg 2010;38:610-4.  Back to cited text no. 7
    
8.
Heymans O, Ronsmans C. Congenital infiltrating lipomatosis of the face. Eur J Plast Surg 2005;28:186-9.  Back to cited text no. 8
    
9.
Haloi AK, Ditchfield M, Penington A, Phillips R. Facial infiltrative lipomatosis. Pediatr Radiol 2006;36:1159-62.  Back to cited text no. 9
    
10.
Mahadevappa A, Raghavan VH, Ravishankar S, Manjunath GV. Congenital infiltrating lipomatosis of the face: A case report. Case Rep Pediatr 2012;2012:134646.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
 
 
    Tables

  [Table 1], [Table 2]



 

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