Department of Plastic & Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Ninth People's Hospital, affiliated to Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Road, Shanghai, 200011, P.R. China.
Department of Pathology, Shanghai Ninth People's Hospital, affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Head Face Med. 2024 Feb 20;20(1):13. doi: 10.1186/s13005-024-00412-6.
Facial infiltrating lipomatosis (FIL) is a rare condition characterized by congenital facial enlargement. Beyond its impact on physical appearance, FIL can also impair essential facial functions such as swallowing, chewing, vision, and breathing, imposing a substantial physiological and psychological burden. Currently, fewer than 80 cases of FIL have been reported, and the characteristics and management strategies for FIL remain unclear.
We reviewed the clinical, surgical, and radiological records of 39 FIL patients who were treated at our center. Of these, genetic testing was performed for 21 patients.
Aberrant overgrowth involves subcutaneous fat, bones, muscles, glands, tongue, lips, and teeth. Epidermal nevi could be observed in the dermatomes innervated by the three branches of the trigeminal nerve, with the highest frequency seen in the dermatome of the mandibular branch. Four patients exhibited concurrent hemimegalencephaly (HMEG), with one case presenting HMEG on the opposite side of the FIL. Nineteen patients were confirmed to harbor the PIK3CA mutation. Thirty-three patients underwent surgical procedures, with a post resection recurrence rate of approximately 25%.
A variety of maxillofacial structures may be involved in FIL. PIK3CA mutations are important pathogenic factors. Emerging targeted therapies could present an additional treatment avenue in the future. However, surgery currently remains the predominant treatment choice for FIL. The timing and modality of surgery should be individually customized, taking into account each patient's unique circumstances. Notably, there is a significant possibility of postoperative recurrence during childhood and adolescence, necessitating early strategic planning of disease management.
面部浸润性脂肪瘤病（FIL）是一种罕见的以先天性面部增大为特征的疾病。除了对外观的影响外，FIL 还可能损害吞咽、咀嚼、视力和呼吸等重要的面部功能，给患者带来巨大的生理和心理负担。目前，FIL 的病例报道不足 80 例，其特征和管理策略仍不清楚。
我们回顾了在我们中心治疗的 39 例 FIL 患者的临床、手术和影像学记录。其中，对 21 例患者进行了基因检测。
异常过度生长涉及皮下脂肪、骨骼、肌肉、腺体、舌头、嘴唇和牙齿。在三叉神经三个分支支配的皮节中可以观察到表皮痣，下颌支的皮节频率最高。4 例患者同时存在半侧巨脑畸形（HMEG），1 例患者在 FIL 对侧存在 HMEG。19 例患者携带 PIK3CA 突变。33 例患者接受了手术治疗，切除后的复发率约为 25%。
多种颌面结构可能受累于 FIL。PIK3CA 突变是重要的致病因素。新兴的靶向治疗可能为未来提供另一种治疗途径。然而，手术目前仍然是 FIL 的主要治疗选择。手术的时机和方式应根据每个患者的具体情况进行个体化定制。值得注意的是，儿童和青少年期术后复发的可能性很大，需要早期制定疾病管理策略。
