Congenital infiltrating lipomatosis of the face associated with PIK3CA gene mutation: a case report
10.3760/cma.j.cn114453-20240310-00063
- VernacularTitle:PIK3CA基因突变的先天性面部浸润性脂肪瘤1例
- Author:
Jin HE
1
;
Ting TANG
1
;
Guangzhe OUYANG
1
;
Yongjing HE
1
;
Jihua WANG
1
Author Information
1. 昆明医科大学第二附属医院整形外科，昆明 650106
- Publication Type:Journal Article
- Keywords:
Lipomatosis;
Facial dysmorphism;
PIK3CA;
Gene mutation
- From:
Chinese Journal of Plastic Surgery
2025;41(10):1076-1080
- CountryChina
- Language:Chinese
-
Abstract:
Congenital infiltrating lipomatosis of the face (CIL-F) represents a rare lipomatous lesion, as evidenced by a case admitted to the Department of Plastic and Reconstructive Surgery at the Second Affiliated Hospital of Kunming Medical University in August 2023. The patient, a 7-year-old male, presented with diffuse enlargement of the right middle and lower face and a forehead mass since birth. Imaging assessments including CT scan with three dimensional reconstruction and MRI revealed infiltrative fatty growth in the right middle and lower face, abnormal subcutaneous fat hyperplasia in the forehead, and asymmetric abnormal hyperplasia of the right mandible. Following surgical resection, genetic testing of the excised tissue identified a mutation of the PIK3CA gene. Remarkably, the patient demonstrated satisfactory recovery six months post-surgery. Given its rarity in clinic, this case offers valuable clinical insights for managing similar disease.
