Akintoye S O, Otis L L, Atkinson J C, Brahim J, Kushner H, Robey P G, Collins M T
Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research/National Institutes of Health, Bethesda, MD, USA.
Oral Dis. 2004 Jan;10(1):36-43. doi: 10.1046/j.1354-523x.2003.00971.x.
Fibrous dysplasia (FD) is a rare skeletal disease caused by activating GNAS1 gene mutations often found in association with the McCune-Albright syndrome (MAS). Multiple bones may be affected in FD, including maxilla and mandible. Patients with MAS have different endocrinopathies that can further influence bone metabolism. The purposes of this cross-sectional study are to characterize FD panoramic radiographic patterns, and to evaluate the effects of age, endocrinopathies and renal phosphate wasting on radiographic characteristics of maxillo-mandibular FD in MAS.
Fifty-one consecutive MAS patients were screened and panoramic radiographs of 43 patients with craniofacial FD were evaluated and analyzed for FD involvement. Clinical chemistries were evaluated for associations between radiographic patterns and age, endocrinopathies or renal phosphate wasting using Fisher's Exact Test.
Four types of radiographic changes were observed: ground glass (granular/condensed trabeculae), radiolucent (lytic), mixed radiolucent/radio-opaque (mixed density) or radio-opaque (sclerotic). Masking or displacement of the maxillary sinus (range: 77.8-86.4%) and mandibular canal (range: 55.6-75.0%) were prevalent in FD sites. Sixty-three percent of the MAS patients had multiple dysregulated endocrine/metabolic functions, the most common were hyperthyroidism, precocious puberty and renal phosphate wasting. There were no statistically significant associations between radiographic patterns and age, endocrinopathies or renal phosphate wasting.
Maxillo-mandibular FD images in panoramic radiographs fall within a spectrum of four different patterns. Patients with facial asymmetry and any of these radiographic patterns should be promptly referred for further radiographic tests and endocrine evaluation if MAS is suspected.
骨纤维异常增殖症（FD）是一种罕见的骨骼疾病，由GNAS1基因突变激活引起，常与McCune-Albright综合征（MAS）相关。FD可累及多块骨骼，包括上颌骨和下颌骨。MAS患者存在不同的内分泌疾病，可进一步影响骨代谢。本横断面研究的目的是描述FD全景X线片的特征，并评估年龄、内分泌疾病和肾磷酸盐消耗对MAS患者上颌下颌FD影像学特征的影响。
对51例连续的MAS患者进行筛查，对43例患有颅面部FD的患者的全景X线片进行评估和分析，以确定FD的累及情况。使用Fisher精确检验评估临床化学指标，以确定影像学表现与年龄、内分泌疾病或肾磷酸盐消耗之间的关联。
观察到四种类型的影像学改变：磨玻璃样（颗粒状/致密小梁）、透射性（溶骨性）、混合透射性/不透射性（混合密度）或不透射性（硬化性）。上颌窦的遮盖或移位（范围：77.8 - 86.4%）和下颌管的遮盖或移位（范围：55.6 - 75.0%）在FD部位较为常见。63%的MAS患者存在多种内分泌/代谢功能失调，最常见的是甲状腺功能亢进、性早熟和肾磷酸盐消耗。影像学表现与年龄、内分泌疾病或肾磷酸盐消耗之间无统计学显著关联。
全景X线片中上颌下颌FD图像呈现四种不同模式。如果怀疑为MAS，面部不对称且有这些影像学表现之一的患者应立即转诊进行进一步的影像学检查和内分泌评估。
