Dental outcomes in Fibrous Dysplasia/McCune Albright Syndrome

描述(申请人提供)：麦考恩-奥尔布赖特综合征(MAS)是一种由GNAS1基因突变引起的罕见的多系统疾病，以多发性骨纤维异常增殖症(FD)、内分泌疾病和CAF-aulait皮肤色素沉着为特征。FD影响头面部骨骼，包括90%的病例的颌骨。FD/MAS患者还与牙科疾病有关，包括牙齿旋转、牙齿移位、缺牙、釉质发育不良、釉质矿化不足、牙髓异常大、乳牙残留、磨耗和严重咬合不良。FD/MAS的牙科管理受到内分泌疾病和阻塞性骨痛的医学影响。此外，经常用于控制FD和相关骨痛的双膦酸盐存在颌骨坏死的风险。早期的主观报告表明，牙科手术可能会加重颌骨FD的损害，但关于颌骨-下颌FD/MAS患者的牙科结果和牙科治疗效果的定性数据仍然有限。我们的合作小组获得了参加NIDCR/NIH正在进行的MAS自然历史研究的140名FD/MAS患者的最大规模、描述和特征良好的队列。这一患者群体代表了壁内-壁外协作研究的适当队列，该研究将评估FD/MAS的牙科治疗结果。我们的目的是确定牙科治疗对MAS患者上下颌FD病变的疗效，以及FD对牙科治疗预后的影响。采用回顾性和前瞻性纵向病例队列分析相结合的方法，我们将在目标1中评估患有上颌骨FD的FD/MAS患者的牙髓和正畸治疗的结果和有效性。在目标2中，我们将确定FD内的牙科手术是否与延迟愈合、骨坏死和加重FD疾病负担有关。从这一独特的罕见疾病患者群体中获得的新知识将提供基于证据的数据，以支持“最佳临床实践”指南。 用于改善FD/MAS患者生活质量的牙科护理。

DESCRIPTION (provided by applicant): McCune-Albright syndrome (MAS), a rare multisystem disorder caused by GNAS1 gene mutation is characterized by polyostotic fibrous dysplasia of bone (FD), endocrine disorders and caf¿-au-lait skin hyperpigmentation. FD affects craniofacial bones including the jaws in 90% of cases. FD/MAS patients are also associated with dental disorders that include tooth rotation, tooth displacement, missing teeth, enamel hypoplasia, enamel hypomineralization, abnormally large pulp chamber, retained deciduous teeth, attrition and severe malocclusion Dental management of FD/MAS is medically compromised by endocrine disorders and handicapping bone pain. Furthermore, bisphosphonates often used to control FD and associated bone pain poses a risk for jaw bone necrosis. Earlier subjective reports indicate dental surgery could exacerbate jaw FD lesions but there is still limited qualitative data on dental outcomes and effectiveness of dental treatments i maxillo-mandibular FD/MAS patients. Our collaborative group has access to the largest well-described and well-characterized cohort of 140 FD/MAS patients enrolled in an ongoing NIDCR/NIH natural history study of MAS. This patient population represents an appropriate cohort for intramural-extramural collaborative research that will assess outcomes of dental treatment in FD/MAS. Our objective is to determine the outcomes of dental therapies on maxillo-mandibular FD lesions in MAS patients and also the impact of FD on the prognosis of dental therapies. Using a combination of retrospective and prospective longitudinal case-cohort analysis we will assess in Aim 1 the outcomes and effectiveness of endodontic and orthodontic therapies in FD/MAS patients with maxillo-mandibular FD. In Aim 2, we will determine whether or not dental surgery within FD is associated with delayed healing, bone necrosis and exacerbation of FD disease burden. New knowledge gained from this unique patient population with a rare disease will provide evidence-based data to support 'best clinical practice' guidelines for dental care that will improve quality of life of FD/MAS patients.