Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S4. doi: 10.1186/1750-1172-7-S1-S4.
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, Gsα, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues.The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.
纤维发育不良（FD）有时伴有骨骼外表现，可包括任何组合的牛奶咖啡斑、内分泌功能亢进症，如促性腺激素非依赖性性早熟、甲状腺功能亢进、生长激素过多、FGF23 介导的肾磷酸盐丢失和/或库欣综合征，以及其他较少见的特征。这些发现中的任何一种与 FD 一起或不与 FD 一起存在的情况称为 McCune-Albright 综合征（MAS）。涉及的组织范围广泛，发现结果不可预测，这是由于分子缺陷是由于广泛表达的信号蛋白 Gsα 的显性激活突变引起的，并且这些突变是随机发生的，通常在发育早期、原肠胚形成之前发生，并且可以分布在许多或少数组织中。通过对潜在受累组织进行系统筛查，并认识到受累组织的模式在一定程度上是在子宫内建立的，可以掌握这种复杂性。彻底的测试可以让临床医生在出现时确定疾病的全部范围，以及哪些组织不受影响。然后可以针对受影响的系统进行治疗和随访，并为患者和家属提供有意义的预后。作者概述了筛查和治疗策略，可有效管理 FD 的骨骼外表现。
