Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2015  |  Volume : 33  |  Issue : 2  |  Page : 156--160

Congenital infiltrating lipomatosis of face: Case report and review of literature


Archana R Shenoy1, Keerthi K Nair1, Ashok Lingappa1, K Sadashiva Shetty2,  
1 Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India
2 Department of Orthodontics and Dentofacial Orthopaedics, Bapuji Dental College and Hospital, Davangere, Karnataka, India

Correspondence Address:
Dr. Keerthi K Nair
Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, MCC B Block, Davangere, Karnataka-577004
India

Abstract

Hemifacial hyperplasia is a rare condition causing unilateral enlargement of all tissues. We report a case of progressive facial asymmetry caused by congenital infiltrating lipomatosis of the face in a 6-year-old boy. The approach to diagnosis in our case is discussed along with a review of cases reported in the literature.



How to cite this article:
Shenoy AR, Nair KK, Lingappa A, Shetty K S. Congenital infiltrating lipomatosis of face: Case report and review of literature.J Indian Soc Pedod Prev Dent 2015;33:156-160


How to cite this URL:
Shenoy AR, Nair KK, Lingappa A, Shetty K S. Congenital infiltrating lipomatosis of face: Case report and review of literature. J Indian Soc Pedod Prev Dent [serial online] 2015 [cited 2022 Aug 8 ];33:156-160
Available from: http://www.jisppd.com/text.asp?2015/33/2/156/155134


Full Text

 Introduction



Many causes for facial asymmetry have been reported in the literature one of which is hemifacial hypertrophy-an entity which was first described by Meckel in 1822, [1] now termed facial hemihyperplasia. Hemifacial hyperplasia is a rare condition originally characterized by unilateral enlargement of all tissues of the face exhibiting enlargement of one half of the head and teeth on the affected side. [2]

 Case Report



A 6-year-old boy was referred to our Department from a private dental clinic regarding a painless swelling in the right middle and lower third of the face. The swelling was noticed by parents at birth and was gradually increasing in size with age. Patient did not have any difficulty in speech or loss of hearing. There was no other relevant history.

On general physical examination there was no abnormality but extra oral examination revealed gross facial asymmetry due to a solitary diffuse swelling of the right side of the face extending supero-inferiorly from a ala tragal line to about 2 cm below the inferior border of the mandible; mediolaterally involving the whole width of the face on the right side [Figure 1]a and b. Borders were indistinct and the skin over the swelling was normal. On palpation there was no increase in surface temperature, swelling was soft, non tender, non compressible, non pulsatile, non fluctuant with positive transillumination test. No signs of paresthesia or anesthesia were noted. There was deviation of the chin towards the left, enlargement of the lower lip on the right side [Figure 1]a and proportional increase in size of the right auricle as compared to its left counterpart [Figure 1]b. Temporomandibular joint (TMJ) was normal. Bilateral solitary submandibular lymph nodes were palpable were approximately 2 × 1 cm in size, mobile, firm in consistency and non tender. Intraoral examination revealed accelerated dento-skeltal growth on the right side. Teeth preset were: 16 15 14 13 52 11, 62 63 24 65 26, 46 45 44 43 42, and 72 73 74 75 36. Calculus deposits were also more evident on the right side [Figure 2]a and b. The child did not show any significant malocclusion. Ipsilateral macroglossia noted with deviation of the tip towards the left and mild enlargement of the fungiform papillae [Figure 2]c. Oral mucosa appeared normal except for an ill- defined solitary swelling of 1.5 × 1 cm diameter, on the right retrocommissure. It was soft, non pulsatile, non fluctuant and non tender.{Figure 1}{Figure 2}

Based on the clinical findings, a working diagnosis of 'congenital hemifacial hyperplasia of the right side' was formulated. Differential diagnosis of congenital infiltrating lipomatosis, lymphangioma and vascular malformation were considered.

An orthopantomograph [Figure 3]a showed enlargement of the right mandible with increase in the ramus length on the affected side and congenitally missing 31 and 41. A posteroanterior cephalogram [Figure 3]b was used to assess the facial asymmetry using Grummon's frontal asymmetry analysis [3] , which revealed osseous hypertrophy of the right maxilla and mandible. No significant alteration was seen in the proportion of the facial height. The occlusal plane was seen to be canting up left. Menton was shifted to the right with increase in the ramus length on the same side and in the mandibular body length on the left side. Routine blood investigations were within normal limits. Ultrasonographic (USG) investigation showed multiple hypoechoic regions. Color Doppler showed no increase in the vascularity. However, the exact delineation of the extent of the lesion was not possible. Hence, patient was subjected to a computed tomography (CT) scan employing 5 mm serial transaxial sections. Brain parenchyma showed normal attenuation values. The lesion appeared as areas of hypoattenuation similar to adipose structures. Hypertrophy of the bones of the right side of the face was noted [Figure 4].{Figure 3}{Figure 4}

A final diagnosis of congenital infiltrating lipomatosis of the right side of the face was made. Oral prophylaxis and restoration of carious teeth was carried out. The right buccal mucosal swelling could be considered as mucosal neuroma. Since the patient did not present with any severe disturbance of function, and also knowing the infiltrative nature and associated recurrence rate of the condition, no invasive procedure was performed. The patient will continue to be under regular clinical follow-up until the stabilization of bone growth, when he will be referred for restorative cosmetic surgery.

 Discussion



Congenital lipomatosis of the parotid gland was reported by Johansen et al in 1970 and Adams et al., in 1981. [4] This was not included in the classification by Enzinger and Weiss, and was first described by Slavin et al., in 1983 as a new separate entity termed "congenital infiltrating lipomatosis of the face" (CIL-F). [5] It differs from the other lipomatosis in its exclusive facial location, its effects on adjacent structures, its congenital nature and its precise histologic characteristics. [6]

CIL-F is a rare congenital disorder that is characterized by collections of unencapsulated, mature lipocytes that infiltrate muscle and soft tissue (Enzinger and Weiss, 1983). [7]

De Rosa et al., [8] described the main characteristics of CIL-F as:

Non-encapsulated congenital fatty tumor containing mature adipocytes.Infiltration of adjacent muscles and soft tissues.Absence of lipoblasts and malignant characteristics.Presence of fibrous elements with numerous nerve bundles and vessels.Hypertrophy of subjacent bone.

Since then more cases of this entity have been described in the literature [Table 1]. Congenital lipomatosis involving localized areas of the head and neck have also been reported. As inferred from the [Table 2], majority of the cases are diagnosed within 2 years of life with the age of presentation varying from 3 months to 53 years. No gender predilection is noted. Slight predilection for occurrence on the left side is noted though our case affected the right side.{Table 1}{Table 2}

CIL-F is a disorder that typically presents itself at birth or in early childhood as a unilateral swelling of the cheek with ill-defined borders. Though congenital, it is not hereditary. Patients show a progressive increase in the size of the swelling with a prominent soft tissue enlargement. Bony asymmetry is found to become more prominent with age. The rest of the clinical examination is normal, with no trunk or limb anomalies. The swelling infiltrates muscle and soft tissues, making excision difficult and recurrence likely.

Progression of the condition appears to follow two patterns: a rapidly progressive form with extensive hypertrophy occurring in early childhood (age: 1 year) and a more indolent form with hypertrophy occurring over decades, with patients presenting for treatment in adulthood. [13]

However, it is proved to be a completely benign lesion with no evidence of malignant transformation.

Etiology

Etiologies proposed in the literature include hamartomatous origin, [5] aberrant differentiation in situ of mesenchymal cells into lipoblasts, [4] cytomegalovirus (CMV) infection [10],[29] alterations in the neural tube during embryo development. [21] Patients were found to be negative to genetic testing. [16],[26]

The contention that prolonged activity of the "primitive fat organ" during fetal life may be involved in the histogenesis seems to have a sound theoretical basis, but is not accepted universally. [11] Somatic mutation at a mosaic state giving rise to adipose stem cells involving a local increase or modification in tissue growth factor might be responsible for mucosal neuroma, bony overgrowth, and precocious tooth development [15] with growth hormones being responsible for the recurrences of the lesion. [16] Germline PTEN mutations in families with Bannayan-Riley-Ruvalcaba Syndrome (BRRS) has been characterized by macrocephaly, lipomatosis, hemangiomatosis and speckled penis. [30]

Diagnosis and Treatment

Though histopathological findings are confirmatory, the young patients need not be subjected to biopsy. Extraoral and intraoral clinical examination, plain radiography, CT, and magnetic resonance imaging (MRI) help in the establishment of diagnosis. Three-dimensional CT analysis is an accurate and reliable method, and provides great benefits which should be considered in the diagnosis and treatment planning of severe asymmetry cases in the craniofacial region. CT is useful in demonstrating the lipomatous nature of the mass, osseous changes, and their exact anatomic location and relationship to surrounding structures prior to surgery. [20]

MRI helps in tumor delineation due to superior soft tissue contrast resolution and clear definition of the location and longitudinal extent of the mass. [31]

The causes and correction of this deformity can have many possibilities and often depend on the nature and extent of the problem. Various authors have proposed early aggressive surgical resection [5],[13] delayed surgical approach [9],[11],[26] liposuction [9],[21] as the treatment options [Table 2]. [10],[15],[24] There have been reports of death due to Pulmonary infection (ref no 10), Cerebral abnormalities (ref no 15), Cardiopulmonary complication (ref no 24). Owing to incomplete resections, high recurrence rates were observed (27.3-62.5%). [5],[10] Early surgical resection has also led to complications. [5],[13] No recurrence was seen when the surgery was carried out at the end of adolescence. [17] Definitive excision and reconstruction can be delayed until adolescence to allow regression of the buccal fat pad, minimize the risk of damage to the facial nerve, and to have a mature contralateral cheek contour to match. The parents should be informed that restoration of full facial symmetry is unlikely, that the lesion tends to recur, and that surgery is accompanied by a high complication rate. [13]

 Conclusion



We recommend that, in the presence of typical history and clinical features, the young patients need not be subjected to extensive invasive procedures as the significant scarring and trauma to the pediatric patient from multiple surgeries is devastating. Diagnosis can be established by examination and radiological findings. The patient can be kept under regular observation until the stabilization of bone growth, after which he can be referred for cosmetic surgery.

References

1Lawoyin JO, Daramola JO, Lawoyin DO. Congenital hemifacial hypertrophy. Report of two cases. Oral Surg Oral Med Oral Pathol 1989;68:27-30.
2Cohen MM Jr. Perspectives on craniofacial asymmetry: The biology of asymmetry. Int J Oral Maxillofac Surg 1995;24:2-7.
3Grummons DC, Kappeyne MA. A frontal asymmetry analysis. J Clin Orthod 1987;27:448-65.
4Chen CM, Lo LJ, Wong HF. Congenital infiltrating lipomatosis of the face: Case report and literature review. Chang Gung Med J 2002;25:194-200.
5Slavin SA, Baker DC, McCarthy JG, Mufarrij A. Congenital infiltrating lipomatosis of the face: Clinicopathologic evaluation and treatment. Plast Reconstr Surg 1983;72:158-64.
6Bouletreau P, Breton P, Friedel M. Congenital infiltrating lipomatosis of the face: Case report. J Oral Maxillofac Surg 2000;58:807-10.
7Weiss S, Goldblum J. Enzinger and Weiss's Soft Tissue Tumors. 4 th ed. St Louis: Mosby; 2001. p. 571-641.
8De Rosa G, Cozzolino A, Guarino M, Giardino C. Congenital infiltrating lipomatosis of the face. J Oral Maxillofac Surg 1987;45:879.
9Van Wingerden JJ, Erlank JD, Becker JH. Liposuction for congenital infiltrating lipomatosis of the face (Letter). Plast Reconstr Surg 1988;81:989.
10Donati L, Candiani P, Grappolini S, Klinger M, Signorini M. Congenital infiltrating lipomatosis of the face related to CMV infection. Br J Plast Surg 1990;43:124-6.
11Macmillan AR, Oliver AJ, Reade PC, Marshall DR. Regional macrodontia and regional bony enlargement associated with congenital infiltrating lipomatosis of the face presenting as unilateral facial hyperplasia. Int J Oral Maxillofac Surg 1990;19:283-6.
12Bataineh AB, Mansour MJ, Abalkhail A. Oral infiltrating lipomas. Br J Oral Maxillofac Surg 1996;34:520-3.
13Kang N, Ross D, Harrison D. Unilateral hypertrophy of the face associated with infiltrating lipomatosis. J Oral Maxillofac Surg 1998;56:885-7.
14Gorken C, Alper M, Bilkay U, Celik N, Songür E. Congenital infiltrating lipomatosis of the face. J Craniofac Surg 1999;10:365-8.
15Unal O, Cirak B, Bekerecioglu M, Kutluhan A, Ugraº S, Tali T. Congenital infiltrating lipomatosis of the face with cerebral abnormalities. Eur Radiol 2000;10:1610-3.
16Padwa BL, Mulliken JB. Facial infiltrating lipomatosis. Plast Reconstr Surg 2001;108:1544-54.
17Kamal 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.
18Aydíngöz U, Emir S, Karlí-Oðuz K, Köse G, Büyükpamukçu M. Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly. Pediatr Radiol 2002;32:106-9.
19Unal S, Demirkan F, Arslan E, Cinel L. Infiltrating lipomatosis of the face: A case report and review of the literature. J Oral Maxillofac Surg 2003;61:1098-101.
20Malik A, Jagmohan P, Thukral BB, Khanna G, Rajni. Congenital infiltrating lipomatosis of the face and neck. Acta Radiol 2004;45:556-60.
21Heymans O, Ronsmans C. Congenital infiltrating lipomatosis of the face. Eur J Plast Surg 2005;28:186-9.
22Haloi AK, Ditchfield M, Penington A, Philips R. Facial infiltrative lipomatosis. Pediatr Radiol 2006;36:1159-62.
23Haloi AK, Ditchfield M, Penington A, Phillips R. Congenital infiltrating lipoma with intrabony invasion into maxilla. Korean J Oral Maxillofac Radiol 2007;37:111-5.
24Pires Fraga MF, Mello D, Jorge D, Perin LF, Helene A. Congenital infiltrating lipomatosis. J Plast Reconstr Aesthet Surg 2009;62:e561-4.
25Alkan O, Yildirim T, Seyhan T, Erbay G, Erol I. Congenital infiltrating lipomatosis of the face with hemimegalencephaly. Neuropediatr 2009;40:141-3.
26Kim JE, Gottschall, Bachman RP, Nemzer L, Puligandla B, Schaeur G. Facial infiltrating lipomatosis: Physical, radiological and histopathological findings. Arch Otolaryngol Head Neck Surg 2010;136:301-3.
27Maruyama K, Okumura A, Negoro T, Watanabe K. Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. Neuropediatr 2010;41:147-50.
28Rajeswaran R, Murthy J, Chandrasekharan A, Joseph S. Case report: Congenital infiltrating lipomatosis of face. Indian J Radiol Imaging 2008;18:306-9.
29Patel RV, Gondalia JS. Congenital infiltrating lipomatosis of the face (Comment Letter). Br J Plast Surg 1991;44:157-8.
30Waite KA, Eng C. Protean PTEN: Form and function. Am J Hum Genet 2002;70:829-44.
31Salvatore C, Antonio B, Vecchio WD, Lanza A, Tartaro G, Giuseppe C. Giant infiltrating lipoma of the face: CT and MR imaging findings. Am J Neuroradiol 2003;24:283-6.