Dental outcomes in Fibrous Dysplasia/McCune Albright Syndrome

描述（由申请人提供）：mcune - albright综合征（MAS）是一种罕见的由GNAS1基因突变引起的多系统疾病，其特征是骨多骨纤维发育不良（FD）、内分泌紊乱和cac -au-lait皮肤色素沉着。FD在90%的病例中影响包括颌骨在内的颅面骨。FD/MAS患者还与牙齿疾病相关，包括牙齿旋转、牙齿移位、缺牙、牙釉质发育不全、牙釉质低矿化、牙髓室异常大、乳牙保留、磨蚀和严重错颌畸形。FD/MAS的牙科治疗在医学上受到内分泌紊乱和残障骨痛的影响。此外，通常用于控制FD和相关骨痛的双膦酸盐会造成颌骨坏死的风险。早期的主观报告表明，牙科手术可能会加剧颌骨FD病变，但关于上颌-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。我们的合作小组可以访问最大的描述良好、特征良好的140名FD/MAS患者队列，这些患者参加了正在进行的NIDCR/NIH MAS自然史研究。该患者群体代表了一个适当的校内外合作研究的队列，该研究将评估FD/MAS牙科治疗的结果。我们的目的是确定MAS患者上颌-下颌FD病变的牙科治疗结果以及FD对牙科治疗预后的影响。通过回顾性和前瞻性纵向病例队列分析的结合，我们将在Aim 1中评估患有上下颌FD的FD/MAS患者的牙髓和正畸治疗的结果和有效性。在Aim 2中，我们将确定FD患者的牙科手术是否与延迟愈合、骨坏死和FD疾病负担加重有关。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

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.