J Oral Maxillofac Surg 58:807-810, 2000

Congenital Infiltrating Lipomatosis of the Face: Case Report

Pierre Bouletreau, MD,* Pierre Breton, PhD, and Maurice Freidel, PhD
Congenital inltrating lipomatosis of the face (CIL-F) is a rare clinicopathologic entity, rst reported by Slavin et al1 in 1983. The inltrative nature of the lesion and the almost inevitable recurrence after surgical excision highlight complex problems of therapeutic management. A new case of hemifacial hypertrophy caused by congenital inltrating lipomatosis of the face is reported, and the diagnostic and therapeutic components are discussed.

Report of Case
A young North African girl, born in February 1978, has been observed in the maxillofacial surgery unit of Lyon since November 1978 for a marked left facial asymmetry. When she was 10 months old, a maxillofacial consultation reported a soft mass inltrating the left cheek skin from the inferior mandibular border to the orbital rim and left labial commissure. The boundaries of the lesion were indistinct, and it was nonpulsatile. The underlying facial skeleton did not seem to be involved by the lesion, and no deformation was visible on the radiographs. The oral mucosa appeared normal. A diagnosis of lymphangioma was made, and it was decided to observe the lesion annually. As the child continued to grow, a progressive increase in the size of the cheek was observed. When she was 12 years old, a biopsy of the upper lip was made at the time of a cheiloplasty, revealing a diffuse, poorly circumscribed, unencapsulated fatty inltration consisting of mature fat cells without any cytologic abnormalities. Nerve and muscular bers and thin-walled blood vessels were observed throughout the adipose tissue. Neither lipoblasts nor signs of malignancy were found (Fig 1). By the time she was 16 years old (Fig 2) the soft tissue inltration had caused left hemimandibular hypertrophy (Fig 3), with deformation of the ramus, body, and condylar process; acceleration of dentoskeletal growth, with macrodontia of the left rst premolar to the second molar; and hypertrophy of the left zygomatic bone. Fatty inltration,

Received from the Department of Stomatology, Maxillo-Facial Surgery and Plastic Surgery of the Face, Centre Hospitalier LyonSud, France. *Resident. Assistant Professor. Head Professor. Address correspondence and reprint requests to Dr Freidel: Department of Stomatology, Maxillo-Facial Surgery and Plastic Surgery of the Face, Centre Hospitalier Lyon-Sud, 69495, Pierre Be nite Cedex, France; e-mail: maurice.freidel@chu-lyon.fr

2000 American Association of Oral and Maxillofacial Surgeons

0278-2391/00/5807-0016$3.00/0 doi:10.1053/joms.2000.7275

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CONGENITAL INFILTRATING LIPOMATOSIS OF THE FACE

FIGURE 1. Biopsy of the upper lip showing diffuse, benign fatty infiltration (hemalum, phloxine, safran stain, original magnification 40).

along with hypertrophy of the masseter, the medial pterygoid muscle, the left hemi-tongue, and the soft tissues of the cheek, was observed on computed tomography and magnetic resonance imaging (Fig 4). No ophthalmologic, neurologic (left cranial nerves V and VII were intact), vascular, respiratory, or cutaneous problems were present. Psychomotor development was completely normal, and no other fatty inltration was discovered on examination of the rest of the body. The diagnosis of CIL-F was nally made based on the clinical, radiologic, and histologic data, and after review of the literature. An inferior mandibular border ostectomy and an alveolar graft using the resected bony fragment were performed to correct the mandibular deformation (Fig 5). When she was age 18 years, a partial reduction of the fatty inltration of the cheek was done through a parotidectomy incision, with preservation of the facial nerve (VII). When she was age 19, a left frontal ostectomy was done through a coronal approach for bone contouring, providing an improvement in facial harmony, but not achieving the normalization expected by the patient. Dental rehabilitation with implants

in the left mandibular region to establish suitable occlusal function is being considered.

Discussion
Lipomatosis of the face, rst reported in 1983 by Slavin et al,1 is extremely rare. Based on 3 clinical cases, they proposed the term CIL-F. De Rosa et al2 reported 3 new cases in 1987, and MacMillan et al,3 1 more case in 1990. One more case of CIL-F was found in the literature (Donati et al4), associated with an infection due to cytomegalovirus. A recent case was published by Kang et al5 in 1998. The hallmark features of this condition are 1) unilateral facial location; 2) presence at birth; 3) hypertrophy of the underlying bone; 4) lipomatous inltration of muscles and soft tissues; 5) absence of malignant characteristics; 6) nonencapsulated lesion containing mature fat cells (absence of lipoblasts and presence of brous elements with increased numbers

FIGURE 2. Patient at age 16 showing the left hemifacial hypertrophy.

FIGURE 3. Panoramic radiograph of the patient at age 16 showing the left hemimandibular hypertrophy.

BOULETREAU, BRETON, AND FREIDEL

809 important. The follow-up of this patient from a very young age allowed us to observe a clear acceleration in dentoskeletal growth and megalodontia of the rst premolar to the second molar. Moreover, resorption of the roots from the maxillary left lateral incisor to the second molar, and from the lower left central incisor to the second premolar, was observed. A left posterior open bite appeared when she was 6 years old as a consequence of the excessive vertical hemimandibular growth. In an article concerning hemifacial hypertrophy, Rowe7 described the dental abnormalities that can be observed, which were the same that found in this case: 1) enlargement of the crowns; 2) abnormal root size and shape; and 3) acceleration of tooth eruption. As suggested by Rushton in 1937,8,9 these abnormalities in dental size and development are certainly an effect of the fatty inltration of the underlying tissues, as is the mandibular hypertrophy seen in the cases of CIL-F reported thus far. The differential diagnosis of lipomatosis includes several other conditions. A lymphangioma is the rst possibility with such a clinical picture, and it can be identied by magnetic resonance imaging. Cutaneous signs usually accompany other conditions, such as inltrating angiolipoma or facial angioma (KippelTrenaunay-Weber, Sturge-Webe-Krabbe), and neurobromatosis of von Recklinghausen with its typical cafe au lait spots. A contralateral hypoplasia, such as hemifacial microsomia (syndrome of the rst and second arch) or progressive hemifacial atrophy (Romberg) also must be ruled out. Lastly, other fatty inltrations, such as well-differentiated liposarcoma or lipoblastomatosis, need to be considered.10 Once these possibilities have been ruled out, clinical and histologic features allow a diagnosis of congenital hemifacial hypertrophy to be made. A diagnosis of CIL-F is established clinically by imaging studies and histopathologically by the hemimandibular hypertrophy and acceleration of dentoskeletal growth, by the diffuse inltration and hypertrophy of the masseter and medial pterygoid muscles, the homolateral enlarged hemitongue and soft tissues of the cheek. The few cases of congenital hemifacial hypertrophy reported11-13 are very similar to the case and the other cases of CIL-F, with hemifacial hypertrophy and progressive deformation of the underlying teeth and bone. The similarity is so striking that MacMillan et al3 suggested that CHH and CIL-F may indeed be one and the same clinical entity. This seems logical. Unfortunately, neither Rowe7 nor Rushton8 described the histology of the lesions they reported. There is no consensus on the surgical treatment of this condition, with different authors proposing different treatments. Although a benign process, CIL-F requires wide resection because of its extensive inl-

FIGURE 4. Magnetic resonance image of the patient at age 16 showing the soft tissue involvement.

of nerve bers and thin-walled vessels); and 7) a tendency to local recurrence after surgical excision. Enzinger and Weiss6 dene lipomatosis as an inltrating and/or diffuse neoplastic or nonneoplastic proliferation of mature fat tissue that resembles and may be confused with well-differentiated liposarcoma. These authors classied this condition into 3 clinical groups: cervical symmetrical (Launois-Bensaude or Madelungs disease), pelvic, and diffuse lipomatosis. No malignant potential has been reported. CIL-F differs from other lipomatoses in its exclusive facial location, its effects on the adjacent dentoskeletal structures, its congenital nature, and its precise histologic characteristics. The dental abnormalities observed, already reported by MacMillan et al,3 are

FIGURE 5. Postoperative panoramic radiograph after the left mandibular ostectomy and alveolar bone graft.

810 tration and the severe deformity it causes. However, this entails the risk of damage to the facial nerve. Furthermore, recurrence is frequent and is probably attributable to the difficulty in achieving complete resection. Slavin et al1 and Kang et al5 recommend wide and early local excision to prevent extensive inltration. Long-term results have yet to be determined. Others, including MacMillan et al,3 recommend a more conservative approach, because of the lesions critical location and benign nature. Our management of this patient followed certain guidelines: 1) no aggressive surgical procedures were undertaken until the end of growth; 2) the profound inltration, both in extension and in depth, makes complete resection practically impossible; 3) both soft tissue and bony structures require surgical correction; and 4) although aesthetic results need to be considered, the benign nature of the condition does not warrant causing signicant scarring. An important improvement in facial harmony was achieved by a marginal mandibular resection, as complete a resection as possible of the fatty inltration of the cheek, and bone contouring. Other, more limited procedures, may follow, but their aesthetic effect will likely be relatively minor, given the extent of the original deformity. An oncologic-type resection with ap reconstruction seems excessive.

CONGENITAL INFILTRATING LIPOMATOSIS OF THE FACE

References
1. Slavin SA, Baker DG, McCarthy JG, et al: Congenital inltrating lipomatosis of the face: Clinicopathologic evaluation and treatment. Plast Reconstr Surg 72:158, 1983 2. De Rosa G, Cozzolino A, Guarino M, et al: Congenital inltrating lipomatosis of the face: Report of cases and review of the literature. J Oral Maxillofac Surg 45:879, 1987 3. MacMillan ARG, Oliver AJ, Reade PC, et al: Regional macrodontia and regional bony enlargement associated with congenital inltrating lipomatosis of the face presenting as unilateral facial hyperplasia: Brief review and case report. Int J Oral Maxillofacial Surg 19:283, 1990 4. Donati L, Candiani P, Grappolini S, et al: Congenital inltrating lipomatosis of the face related to cytomegalovirus infection. Br J Plast Surg 43:124, 1990 5. Kang N, Ross D, Harrison D: Unilateral hypertrophy of the face associated with inltrating lipomatosis. J Oral Maxillofac Surg 56:885, 1998 6. Enzinger FM, Weiss SW: Benign lipomatous tumors, in Soft Tissue Tumors. St Louis, MO, CV Mosby, 1983, p 199 7. Rowe NH: Hemifacial hypertrophy review. Oral Surg 15:572, 1962 8. Rushton MA: Partial gigantism of the face and teeth. Br Dent J 62:572, 1937 9. Rushton MA: A dental abnormality of size and rate. Proc R Soc Med 41:490, 1948 10. Hoehn JG, Yalamanchi BA, Pilon V: Benign lipoblastomatosis: Report of a case involving the face and neck. Plast Reconstr Surg 73:455, 1984 11. Firmin F, Perrot-Bassoul MC: Quel diagnostic porter? A propos dune hypertrophie he mifaciale. Ann Chir Plast Esth 38:151, 1993 12. Khanna JN, Andrade NN: Hemifacial hypertrophy: Report of two cases. Int J Oral Maxillofac Surg 18:294, 1989 13. Lawoyin JO, Daramola JO, Lawoyin DO: Congenital hemifacial hypertrophy: Report of two cases. Oral Surg Oral Med Oral Pathol 68:27, 1989