Facial Infiltrating Lipomatosis

Abstract

Facial infiltrating lipomatosis is a rare congenital disorder in which mature lipocytes invade adjacent tissue. The phenotypic features include soft-tissue and skeletal hypertrophy, premature dental eruption, and regional macrodontia. There is a high risk for regrowth after resection that is, perforce, subtotal. The etiology, natural history, optimal management, and relationship to other disorders of fatty overgrowth are unclear. In this study, the clinical features, radiographic findings, histopathology, and postoperative results were analyzed in 13 patients with facial infiltrating lipomatosis. The condition was diagnosed in infancy (eight male subjects, five female subjects) and characterized by enlargement of the cheek (n = 12) or chin (n = 1). Other findings included cutaneous capillary blush (n = 9), ipsilateral macroglossia (n = 8), and mucosal neuromas (n = 6). Most patients had early eruption of ipsilateral deciduous and permanent teeth (n = 12). Computed tomography and magnetic resonance imaging showed an infiltrated soft-tissue mass of fatty density (n = 13) and skeletal overgrowth (n = 9). Multiple resection was performed on six patients (mean number of operations per patient, 2.5; range, one to six operations); regrowth and/or worsening of the capillary stain occurred in all six patients. Because surgical removal of the mass is usually unsuccessful, specific management of this condition will require insight into its etiopathogenesis. Given the presence of mucosal neuromas and lipomatosis, this study included testing for the known mutations in three entities that are associated with these soft-tissue findings (Cowden syndrome, Bannayan-Riley-Ruvalcava syndrome, and multiple endocrine neoplasia type 2B). Results of DNA analyses for these germline mutations were negative. It is more likely that this disorder is caused by a somatic mutation involving a local increase in growth factor(s).

Heterogeneity of adipose tissue in development and metabolic function

“…Rare forms of human WAT dystrophies, such as Köbberling-Dunnigan syndrome (Anderson et al, 1999;Jackson et al, 1998;Peters et al, 1998) and congenital infiltrating lipomatosis of the face (D'Souza et al, 2014;Padwa and Mulliken, 2001;Urs et al, 2013), suggest different origins for subcutaneous adipocytes in the lower versus upper body part (Lemos et al, 2012;Sanchez-Gurmaches and Guertin, 2014a). To this end, lineage tracing by expressing the Cre protein (which causes DNA recombination) under the control of the neural crest marker Sox10 (SRY-related HMGbox 10) showed that adipocytes in the head and neck, but not trunk pgWAT and SAT, develop from the neuroectoderm (Billon et al, 2007).…”

Functionally Convergent White Adipogenic Progenitors of Different Lineages Participate in a Diffused System Supporting Tissue Regeneration

“…While the mesoderm has long been considered the only source of WAT, certain forms of WAT dystrophies, such as congenital infiltrating lipomatosis of the face (CIL-F) [6,7] and the Dunnigan-Kobberling syndrome [8] suggest the existence of different cellular mechanisms for cephalic versus trunk and limb adipogenesis. Recently, others and we have reported the existence of a population of mesenchymal progenitors residing in both WAT and skeletal muscle that contains virtually all the adipogenic activity of both tissues [9][10][11][12].…”

Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature

“…8 High signal intensity (isointense to fat) of the lesion on T 1 and T 2 weighted images (hypointense on fat suppressed images) in young patients is diagnostic in the presence of typical clinical features, thus eliminating need for biopsy. 4,21 Facial nerve encasement and intracranial/cerebral abnormalities (ipsilateral hemimegalencephaly, asymmetric ventricular-sylvian fissure dilatation, arachnoid cyst, cerebellopontine angle lipoma) can also be seen on MRI. [22][23][24] However, MRI features are not always reliable to differentiate CIL-F from well-differentiated liposarcomas.…”