Facial infiltrating lipomatosis

Facial infiltrating lipomatosis is a rare congenital disorder in which matu re lipocytes invade adjacent tissue. The phenotypic features include soft-t issue and skeletal hypertrophy, premature dental eruption, and regional mac rodontia. There is a high risk for regrowth after resection that is, perfor ce, Subtotal. The etiology, natural history, optimal management. and relati onship to other disorders of fatty, overgrowth are unclear. In this study, tile clinical features, radiographic findings, histopathology, and postoper ative results were analyzed in 13 patients with facial infiltrating lipomat osis. The condition was diagnosed in infancy (eight male subjects, five fem ale subjects) and characterized by enlargement of the check (n = 12) or chi n ( n = 1). Other findings included cutaneous capillary blush (n = 9), ipsi lateral macroglossia (n = 8). and mucosal neuromas (n = 6). Most patients h ad early eruption of ipsilateral deciduous and permanent teeth ( n = 12). C omputed tomography and magnetic resonance imaging showed an infiltrated sof t-tissue mass of fatty density (n = 13) and skeletal Overgrowth (n = 9). Mu ltiple resection was performed on six patients (mean number of operations p er patient, 2.5; range, one to six operations); regrowth and/or worsening o f the capillary stain Occurred in all six patients. Because surgical remova l of the mass is usually unsuccessful, specific management of this conditio n will require insight into its etiopathogenesis. Given tile Presence Of mu cosal neuromas and lipomatosis. this study, included testing for the known mutations in three entities that are associated with these soft-tissue Find ings (Cowden syndrome, Bannayan-Riley-Ruvaclava syndrome, and Multiple endo crine neoplasia type 2B). Results Of DNA analyses for these germline mutati ons were negative. It is more likely that this disorder is caused by a soma tic mutation involving a local increase in growth factor(s).