Facial infiltrating lipomatosis: A case report and review of literature

Abstract

Infiltrating lipomatosis of the face has been described as a congenital disorder in which mature lipocytes invade adjacent tissues in the facial region. The presentation is always unilateral with hypertrophy of hard and soft structures on the affected side of the face. We present a case of a 27-year-old female who reported with a complaint of recurrent unilateral facial swelling with history of two previous resections, the histopathology or details of these surgeries were not available. The patient underwent resection of tumour and the histopathology confirmed it to be infiltrating lipomatosis. The surgery resulted in a definite improvement in the facial asymmetry and the patient is being closely followed up with no evidence of recurrence. The pathogenesis of the condition is unclear, though it has been postulated that the condition is at one end of a spectrum of overgrowth syndromes with classic Proteus syndrome on the other extreme. Management of this condition involves resection of the tumour which in most cases is subtotal to reduce the risk of damage to facial nerve. There is a controversy regarding both timing and extent of resection in the literature and we think the subtotal resection of tumour in an adolescent or older patient can give good aesthetic outcome without compromising facial nerve function. However, the patients should be informed about high rate of recurrence and increase risk of complications with any subsequent surgery.

Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

“…This CIL-F condition usually presents as either a rapidly progressive form with extensive enlargement occurring in early childhood (under 1 year) or a more indolent form with enlargement occurring over decades, with patients presenting for treatment in adulthood [49]. All cases reported in the literature have occurred in the first three decades of life [50], with our review yielding an average age of presentation as 17 years. Facial asymmetry at birth is a common clinical presentation of CIL-F [51].…”

“…The pathogenesis of CIL-F remains unclear [50], with current theories including mutation in the PIK3CA gene, leading to lipomatous change through trauma, chronic irradiation, muscular metaplasia, degenerative processes with fatty transformation, influence of hormones on multipotential cells, and alteration in chromosome 12 [51,52]. CIL-F is at one end of a spectrum of overgrowth syndromes including Proteus syndrome, supporting the role of somatic mosaicism and sporadic occurrence with no age or sex predilection [53].…”

“…Facial asymmetry at birth is a common clinical presentation of CIL-F [51]. Presence of lipomatous masses is always unilateral with enlargement of hard and soft structures on the affected side of the face [50]. Other associated clinical features include increased density of facial hair on the affected side, ipsilateral hemimacroglossia and eyelid ptosis, ipsilateral faint cutaneous capillary stain, a regional macrodentia, and early eruption of deciduous permanent teeth [51,52].…”

Diffuse Lipomatosis of Face

“…1 It comes under the subset of lipomatous tumorlike lesions and is designated by collection of nonencapsulated, mature adipocytes that infiltrate local tissues, leading to cranio facial deformities and is prone to recur postsurgery. 2 The tumorlike lesion is congenital in origin and presents in infancy or early childhood as unilateral facial asymme try. 3 Until date, fewer than 50 cases have been reported in English literature.…”

“…3 Until date, fewer than 50 cases have been reported in English literature. 2,4 We report a case of a 5yearold…”