Adetayo Oluwaseun A, Salcedo Samuel E, Borad Vedant, Richards Sara S, Workman Adrienne D, Ray Andrea O
Division of Plastic Surgery, Albany Medical Center, Albany, NY.
Department of Plastic Surgery, Loma Linda University Medical Center, Loma Linda, CA.
Eplasty. 2015 Feb 26;15:e6. eCollection 2015.
First described by Von Recklinghausen in 1891, fibrous dysplasia is a developmental defect of osseous tissue such that bone is produced with an abnormally thin cortex and marrow is replaced with fibrous tissue that demonstrates characteristic ground-glass appearance on x-ray examination. The underlying defect in fibrous dysplasia is a mutation of the GNAS1 gene, which leads to constitutive activation of gene products that preclude the maturation of osteoprogenitor cells and lead to development of abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. There exists a mainly self-limiting form of fibrous dysplasia classified as monostotic, which is characterized by dysplastic bone in a single location that remains relatively stable throughout life and a polyostotic form, which can exhibit aggressive growth placing adjacent structures at risk for compressive sequelae.
We present the surgical management of an unusual case of monostotic fibrous dysplasia, which exhibited aggressive growth with mass effect, and late presentation, both uncharacteristic features for the monostotic form. The authors also performed a comprehensive review of the literature and discuss the disease process, management options, and indications for surgical treatment.
An overview of the disease process and management options is presented. The authors also present details of reconstruction in an unusual form of symptomatic monostotic fibrous dysplasia.
Conservative management is usually the mainstay of therapy in asymptomatic cases of fibrous dysplasia. In patients fulfilling criteria for surgical management, craniofacial reconstruction offers a viable option in the surgeon's armamentarium, providing good functional and cosmetic outcomes.
骨纤维异常增殖症于1891年由冯·雷克林豪森首次描述，是一种骨组织发育缺陷，其生成的骨皮质异常薄，骨髓被纤维组织替代，在X线检查中呈现出特征性的磨玻璃样外观。骨纤维异常增殖症的潜在缺陷是GNAS1基因突变，该突变导致基因产物的组成性激活，阻止成骨祖细胞成熟，并导致由未分化间充质细胞产生的异常骨基质、小梁和胶原的发育。骨纤维异常增殖症主要存在一种自限性形式，分类为单骨型，其特征是单个部位的发育异常骨在一生中保持相对稳定，还有一种多骨型，可表现出侵袭性生长，使相邻结构面临压迫性后遗症的风险。
我们介绍了一例罕见的单骨型骨纤维异常增殖症的手术治疗情况，该病例表现出具有占位效应的侵袭性生长和就诊较晚的情况，这两种特征均不符合单骨型的特点。作者还对文献进行了全面回顾，并讨论了疾病过程、治疗选择和手术治疗指征。
介绍了疾病过程和治疗选择的概述。作者还展示了一例罕见的有症状单骨型骨纤维异常增殖症重建手术的详细情况。
对于无症状的骨纤维异常增殖症病例，保守治疗通常是主要治疗方法。对于符合手术治疗标准的患者，颅面重建是外科医生的可行选择，可提供良好的功能和美容效果。
