Managing facial infiltrating lipomatosis associated with PIK3CA mutation: From surgery to targeted therapy

Abstract

Facial infiltrating lipomatosis (FIL) is a congenital asymmetrical deformity of the maxillofacial region that can significantly affect a patient’s facial appearance and function. With the development of sequencing technologies, PIK3CA mutations are considered among the potential etiologies of FIL. The management and treatment of FIL involves plastic surgery; more recently, an improved understanding of its pathogenesis has given rise to new treatment options, including targeted therapy. Here we report the clinical data of two patients diagnosed with FIL and present current curative concepts.