Clinical guidelines for the management of craniofacial fibrous dysplasia.
Clinical guidelines for the management of craniofacial fibrous dysplasia.
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DOI：
10.1186/1750-1172-7-s1-s2
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发表时间：
2012-05-24
影响因子：
3.7
通讯作者：
Kaban LB
中科院分区：
文献类型：
--
作者：
Lee JS;FitzGibbon EJ;Chen YR;Kim HJ;Lustig LR;Akintoye SO;Collins MT;Kaban LB
纤维性发育不良 (FD) 是一种由 GNAS 基因的合子后激活突变引起的非恶性疾病，导致成骨基质细胞的分化和增殖受到抑制，并导致正常骨和骨髓被纤维组织和编织骨取代。表型是可变的，可以分离到单个骨骼部位或多个部位，有时与皮肤和/或内分泌器官的骨骼外表现相关（麦库恩-奥尔布赖特综合征）。 FD 的临床行为和进展也可能有所不同，因此在缺乏既定临床指南的情况下，使这种情况的治疗变得困难。本文以临床为重点，全面描述颅面 FD、其自然进展、诊断评估的组成部分和多学科管理，以及对未来研究的考虑。
Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research.