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进行性骨化性纤维发育不良中的异位假关节

Ectopic pseudojoints in fibrodysplasia ossificans progressiva.

作者信息

Pignolo Robert J, Al Mukaddam Mona, Broski Stephen, Morhart Rolf, Drake Luke T, Kneeland Bruce, Towler O Will, Kaplan Frederick S

机构信息

Department of Medicine, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN 55905, United States.

Department of Orthopaedic Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.

出版信息

JBMR Plus. 2025 Jun 18;9(8):ziaf107. doi: 10.1093/jbmrpl/ziaf107. eCollection 2025 Aug.

DOI:10.1093/jbmrpl/ziaf107
PMID:40757145
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12315676/
Abstract

Pseudoarthroses (false joints) occur as a complication of fracture healing in the normotopic skeleton but have not been reported at ectopic sites. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive heterotopic ossification (HO) and congenital skeletal abnormalities including developmental arthropathy in the normotopic skeleton. Here, we report ectopic pseudojoint formation in 6 patients with FOP, all occurring after painful flare-ups and HO in soft connective tissues of the knee, hip, and forearm. To our knowledge, FOP is the only human condition in which ectopic pseudojoint formation occurs. These findings support that dysregulated BMP pathway signaling from mutant ACVR1 mediates not only HO, but also ectopic pseudojoint formation, and that ectopic pseudojoints can arise from de novo musculoskeletal elements.

摘要

假关节在正常位置的骨骼中作为骨折愈合的并发症出现，但异位部位尚未有相关报道。进行性骨化性纤维发育不良（FOP）是一种极为罕见的遗传性疾病，其特征为进行性异位骨化（HO）以及先天性骨骼异常，包括正常位置骨骼中的发育性关节病。在此，我们报告了6例FOP患者出现异位假关节形成，均发生在膝关节、髋关节和前臂的软结缔组织疼痛发作和HO之后。据我们所知，FOP是唯一出现异位假关节形成的人类病症。这些发现支持，来自突变型ACVR1的骨形态发生蛋白（BMP）信号通路失调不仅介导HO，还介导异位假关节形成，并且异位假关节可源自新生的肌肉骨骼成分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/74c6cfb07793/ziaf107f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/3f3b1d8adf5f/ziaf107ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/0c31efc8b961/ziaf107f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/f720604e6033/ziaf107f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/153e24184edf/ziaf107f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/c2795b096a3c/ziaf107f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/74c6cfb07793/ziaf107f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/3f3b1d8adf5f/ziaf107ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/0c31efc8b961/ziaf107f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/f720604e6033/ziaf107f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/153e24184edf/ziaf107f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/c2795b096a3c/ziaf107f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2761/12315676/74c6cfb07793/ziaf107f5.jpg

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本文引用的文献

1
The Genetic and Biological Basis of Pseudoarthrosis in Fractures: Current Understanding and Future Directions.骨折后假关节形成的遗传和生物学基础：当前认识与未来方向
Diseases. 2025 Mar 3;13(3):75. doi: 10.3390/diseases13030075.
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Congenital tibial pseudarthrosis: A challenge in pediatric radiology.先天性胫骨假关节：儿科放射学中的一项挑战。
Radiol Case Rep. 2024 Apr 4;19(6):2502-2507. doi: 10.1016/j.radcr.2024.03.045. eCollection 2024 Jun.
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Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization.
纤维性骨发育不良伴进行性骨化（FOP）在美国的流行率：来自三个治疗中心和一个患者组织的估计。
Orphanet J Rare Dis. 2021 Aug 5;16(1):350. doi: 10.1186/s13023-021-01983-2.
4
The Developmental Phenotype of the Great Toe in Fibrodysplasia Ossificans Progressiva.进行性骨化性纤维发育不良中拇趾的发育表型。
Front Cell Dev Biol. 2020 Dec 8;8:612853. doi: 10.3389/fcell.2020.612853. eCollection 2020.
5
Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP).ACVR1 介导的 BMP 信号失调会损害进行性骨化性纤维发育不良（FOP）中的指关节发育。
Dev Biol. 2021 Feb;470:136-146. doi: 10.1016/j.ydbio.2020.11.004. Epub 2020 Nov 17.
6
Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva.纤维性骨发育不良所致骨化性肌炎患者的骨骼畸形和发育性关节病。
Bone. 2020 Jan;130:115116. doi: 10.1016/j.bone.2019.115116. Epub 2019 Oct 23.
7
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.对《进行性骨化性纤维发育不良的自然史：注释基线表型的横断面分析》的修正
Orphanet J Rare Dis. 2019 May 23;14(1):113. doi: 10.1186/s13023-019-1096-3.
8
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.纤维性骨发育不良进展性的自然史：注释基线表型的横断面分析。
Orphanet J Rare Dis. 2019 May 3;14(1):98. doi: 10.1186/s13023-019-1068-7.
9
ACVR1 FOP mutation alters mechanosensing and tissue stiffness during heterotopic ossification.ACVR1 FOP 突变改变异位骨化过程中的机械感知和组织硬度。
Mol Biol Cell. 2019 Jan 1;30(1):17-29. doi: 10.1091/mbc.E18-05-0311. Epub 2018 Oct 31.
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J Bone Miner Res. 2017 Dec;32(12):2489-2499. doi: 10.1002/jbmr.3235. Epub 2017 Sep 22.