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Specific Characteristic of Hyperplastic Callus in a Larger Cohort of Osteogenesis Imperfecta Type V

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Abstract

Hyperplastic callus (HPC) is the most conspicuous features of osteogenesis imperfecta (OI) type V, of which accurate diagnosis and treatment are facing challenges. We investigate the clinical features, and impact factors of HPC in OI type V patients. In this retrospective single-center study, a total of 21 patients with type V OI confirmed by IFITM5 mutation were included. Radiological characteristics of bone were evaluated by X-rays, dual-energy X-ray absorptiometry, and computed tomography scan. Bone biopsy specimens were performed and stained by routine hematoxylin–eosin. The effects of bisphosphonates on HPC were investigated. Eleven patients (52.3%) had HPCs at 19 skeletal sites, 11 of which affected the femur. Three patients developed four (21.1%) HPCs after fractures, and 15 (78.9%) HPCs occurred in absence of bone fracture. The progress of HPCs was variable, of which most HPCs enlarged in the initial phase and remained stable, and only one HPC dwindled in size. One patient had a rapidly growing mass on the right humerus, and biopsy showed irregular trabeculae of woven bone and immature bone and cartilage in the loose and edematous collagenous network without signs of tumor. Bisphosphonates treatment had no significant effects on HPC of OI patients. HPC is the specific characteristic of OI type V patients, and its location, shape, size, and progression are variable, and the femur is the most frequently involved site. It is very important to make a diagnosis of HPC through detecting IFITM5 mutation and completing pathological diagnosis if necessary. The treatment of HPC is worth further exploration.

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Acknowledgements

We appreciated the patients for their participation. We are so grateful to Department of Orthopedic Surgery and Department of Radiology of PUMCH, Department of Pathology, and Department of Pediatric Orthopedics of Bei**g Jishuitan Hospital for their assistance.

Funding

This work was supported by National Key R&D Program of China (2018YFA0800801), National Natural Science Foundation of China (No.81873668, No.82070908), and Bei**g Natural Science Foundation (7202153).

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Authors and Affiliations

  1. Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No. 1, Dongcheng District, Bei**g, 100730, China

    Wen-bin Zheng, **g Hu, Ou Wang, Yan Jiang, Wei-bo ** **ng & Mei Li

  2. Department of Orthopedic Surgery, Chinese Academy of Medical Sciences and Peking Union Medical College, Bei**g, 100730, China

    Jia Zhang

  3. Department of Pediatric Orthopedics, Bei**g Jishuitan Hospital, Bei**g, 100035, China

    Zheng Yang

  4. Department of Radiology, Chinese Academy of Medical Sciences and Peking Union Medical College, Bei**g, 100730, China

    Wei Yu

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  1. Wen-bin Zheng
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Contributions

WBZ carried out the molecular genetic studies, collected the clinical and radiographic data from the patients, analyzed the data, and wrote the manuscript. JH and JZ contributed to data collection. ZY helped collect blood samples. OW, YJ, XPX, WBX, and WY contributed to review the manuscript. ML contributed to the conception and design of the research, acquisition, and interpretation of the data and revised the manuscript.

Corresponding author

Correspondence to Mei Li.

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Wen-bin Zheng, **g Hu, Jia Zhang, Zheng Yang, Ou Wang, Yan Jiang, Wei-bo ** **ng, Wei Yu, and Mei Li declare that they have no competing interests.

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Informed consent was obtained from the patients or their guardians in the study. They agreed to participate in this study and agree for publication of relevant research results. The study protocol was approved by the Scientific Research Ethics Committee of PUMCH.

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Zheng, Wb., Hu, J., Zhang, J. et al. Specific Characteristic of Hyperplastic Callus in a Larger Cohort of Osteogenesis Imperfecta Type V. Calcif Tissue Int 110, 451–463 (2022). https://doi.org/10.1007/s00223-021-00932-2

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