Multiple neurofibromatosis type 1 in the right maxillofacial region: a case report and literature review
10.12016/j.issn.2096-1456.202550328
- Author:
CAI Yongkang
1
;
WEN Xin
2
;
YU Yun
2
;
CHEN Weiliang
1
;
HUANG Zhiquan
1
;
HUANG Zixian
1
Author Information
1. Department of Oral and Maxillofacial Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University
2. Ophthalmology Department, Sun Yat-sen Memorial Hospital, Sun Yat-sen University
- Publication Type:Journal Article
- Keywords:
neurofibromatosis type 1;
plexiform neurofibromas;
orbitofacial neurofibromatosis;
malignant peripheral nerve sheath tumor;
café-au-lait macules;
children;
multidisciplinary diagnosis and treatment;
selumetinib;
rare diseases
- From:
Journal of Prevention and Treatment for Stomatological Diseases
2025;33(11):968-978
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and diagnosis and treatment plans of neurofibromatosis type 1 (NF1), and to provide references for clinical diagnosis and treatment.
Methods :The clinical manifestations and treatment of an 8-year-old female patient with NF1 was reported. A literature review was conducted to summarize the clinical characteristics and therapeutic strategies of NF1. Multiple NF1s occurred on the right cheek, orbit, and eyelid, and recurred after surgical resection. The tumor caused ptosis, incomplete closure, and vision loss in the upper eyelid of the right eye. After a multidisciplinary assessment determined that radical resection was not feasible, selumetinib sulfate targeted therapy was adopted (25 mg, Po, bid), 28 days constitute one treatment course, and 14 courses have been completed, combined with symptomatic ocular treatments, such as Befusu.
Result:The follow-up showed that the tumor volume did not continue to increase (stable disease), the uncorrected vision of the right eye improved (0.05 vs 0.1), and no drug-related adverse reactions occurred during the treatment period. The literature review summarizes the diverse clinical manifestations of NF1, with café-au-lait macules, multiple neurofibromas, and Lisch nodules being hallmark features. Currently, surgical intervention remains the most commonly employed and primary therapeutic approach for NF1; however, for patients who do not meet the criteria for surgery, alternative treatment strategies should be considered. MEK inhibitors, such as selumetinib, demonstrate significant efficacy in inhibiting the growth of NF1-associated plexiform neurofibromas, with tumor volume reductions of at least 20% observed in 70% of pediatric patients in the SPRINT clinical trial. Furthermore, these inhibitors exhibit favorable long-term safety profiles.
Conclusion : Café-au-lait macules, multiple neurofibromas, and Lisch nodules are hallmark features of NF1. Selumetinib is safe and effective for NF1 in the head and neck of children, and it is the preferred treatment option for patients who are not suitable for surgery. Long-term follow-up monitoring of tumor changes and drug safety is required.
- Full text:2025111109242921062右颌面部多发I型神经纤维瘤病1例及文献回顾.pdf
