Advances in the Treatment of Congenital Infiltrating Lipomatosis of the Face: The Role of PIK3CA Mutations and Microvascular Reconstruction

Stephen D Moreno; Robert H Liu; Quinn Robbins; Jason Burkes

doi:10.1097/SCS.0000000000010751

Advances in the Treatment of Congenital Infiltrating Lipomatosis of the Face: The Role of PIK3CA Mutations and Microvascular Reconstruction

J Craniofac Surg. 2024 Oct 1. doi: 10.1097/SCS.0000000000010751. Online ahead of print.

Authors

Stephen D Moreno¹, Robert H Liu², Quinn Robbins³, Jason Burkes^{4

5}

Affiliations

¹ Department of Oral and Maxillofacial Surgery, Naval Medical Center San Diego, San Diego, CA.
² Department of Oral and Maxillofacial Surgery, National Capital Consortium, Walter Reed National Military Medical Center.
³ Department of Oral and Maxillofacial Pathology, Naval Medical Leader and Professional Development Command, Naval Postgraduate Dental School and Uniformed Services University of the Health Sciences Postgraduate Dental College.
⁴ Department of Oral Maxillofacial Surgery, Walter Reed National Military Medical Center.
⁵ Department of Surgery, F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences (USUHS), Bethesda, MD.

PMID: 39724639
DOI: 10.1097/SCS.0000000000010751

Abstract

Congenital infiltrating lipomatosis of the face is a rare aggressive-benign disorder characterized by progressive hemifacial overgrowth and complex, often asymmetrical, facial differences. Recently linked with the PIK3CA-Related Overgrowth Spectrum, it arises from mosaic mutations in the PIK3CA gene. Treatment, largely supportive and tailored to individual clinical presentations, requires a multidisciplinary approach. This article reviews the longitudinal care of a young adult patient from 8 years of age, detailing his journey through combined orthognathic and microvascular reconstructive surgery and the outcomes thereof. In addition, it explores the treatment's implications in the context of the PIK3CA mutation, offering insights into potential prognostic and therapeutic considerations.