Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany;
Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
Anticancer Res. 2022 May;42(5):2607-2623. doi: 10.21873/anticanres.15739.
BACKGROUND/AIM: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that is also characterized by skeletal abnormalities. In the cranial region, skeletal dysplasia is observed that is associated with a characteristic peripheral nerve sheath tumor, the plexiform neurofibroma (PNF). The aim of the study was to determine PNF-associated skeletal asymmetries of the mid-skull and skull base as an indicator of local tumor development.
The distances of the zygomatic arch, mastoid, and juga measurement points from the interorbital horizontal plane and median sagittal plane were examined on anterior-posterior cephalograms of 168 NF1 patients (females: 82, males: 86) and compared with the findings of a control group. A distinction was made as to whether the patients had developed a facial PNF.
The distances of the measurement points from the reference planes differed between the patient and control group (p<0.05). Within the NF1 patients, differences between certain distances were noted when comparing patients with PNF and without PNF (p<0.05). In PNF patients, discrete changes in the skull contour were also detectable on the non-affected side (p<0.05). The caudal measurement point of the skull base showed no changes in the group comparison.
The individually very variable facial PNF in NF1 is associated with deformations and misalignments of midfacial bones that follow a pattern quantifiable with cephalometric analysis.
背景/目的：神经纤维瘤病 1 型（NF1）是一种常染色体显性遗传的肿瘤易感性综合征，其特征还包括骨骼异常。在颅部区域，观察到骨骼发育不良，与特征性的外周神经鞘瘤丛状神经纤维瘤（PNF）有关。本研究的目的是确定 PNF 相关的中颅和颅底骨骼不对称，作为局部肿瘤发展的指标。
在 168 例 NF1 患者（女性 82 例，男性 86 例）的前后头颅侧位片上检查了颧骨、乳突和 jugum 测量点到眶间水平平面和正中矢状平面的距离，并与对照组的结果进行了比较。区分了患者是否发生了面部 PNF。
测量点与参考平面之间的距离在患者组和对照组之间存在差异（p<0.05）。在 NF1 患者中，比较有和无 PNF 的患者时，某些距离之间存在差异（p<0.05）。在 PNF 患者中，颅骨轮廓的离散变化在未受影响的一侧也可以检测到（p<0.05）。颅底的尾部测量点在组间比较中没有变化。
NF1 中个体差异很大的面部 PNF 与中面部骨骼的变形和错位有关，这些变形和错位可以通过头影测量分析进行量化。
