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V型成骨不全症中类似骨肉瘤的迟发性增生性骨痂形成——病例报告

Late onset hyperplastic callus formation in osteogenesis imperfecta type V simulating osteosarcoma-A case report.

作者信息

Vonderlind Hans Christoph, Jessel Matthias, Knobel Alexander, Juergensen Ingke, Struewer Johannes

机构信息

Department of Orthopaedics and Traumatology, University Hospital Oldenburg, Germany.

Department of Orthopaedics and Traumatology, University Hospital Oldenburg, Germany.

出版信息

Int J Surg Case Rep. 2020;69:83-86. doi: 10.1016/j.ijscr.2020.03.024. Epub 2020 Mar 28.

Abstract

INTRODUCTION

We report a case of late onset hyperplastic callus formation (HPC) in the right femur in type V osteogenesis imperfecta (OI) mimicking the occurrence of a malignant osteosarcoma.

PRESENTATION OF CASE

A 27-year-old female patient consulted us due to swelling in her right femur over 2-3 months without trauma. X-rays looked like an osteosarcoma, blood tests showed increased bone metabolism. A CT scan, a MRI and biopsy were performed, showing late onset HPC due to osteogenesis imperfecta type V.

DISCUSSION

OI shows a heterogeneous disease pattern due to a variety of clinical and radiographic findings. HPC is a rare complication of OI type V. Differential diagnosis range from cortical or periosteal osteosarcoma, periostitis, myositis ossificans, subperiosteal hematoma secondary to trauma or osteomyelitis.

CONCLUSION

Recognition of HPC as a form of this particular type of OI is important to avoid misdiagnosis like malignant transformation to osteosarcoma. A biopsy and advanced imaging modalities like CT, MRI and scintigraphy are recommended.

摘要

引言

我们报告一例V型成骨不全症(OI)患者右股骨出现迟发性增生性骨痂形成(HPC),类似骨肉瘤的发生。

病例介绍

一名27岁女性患者因右股骨肿胀2 - 3个月前来就诊,无外伤史。X线检查结果类似骨肉瘤,血液检查显示骨代谢增加。进行了CT扫描、MRI检查及活检,结果显示为V型成骨不全症导致的迟发性HPC。

讨论

由于多种临床和影像学表现,OI呈现出异质性疾病模式。HPC是V型OI的一种罕见并发症。鉴别诊断范围包括皮质或骨膜骨肉瘤、骨膜炎、骨化性肌炎、创伤继发的骨膜下血肿或骨髓炎。

结论

认识到HPC是这种特殊类型OI的一种形式,对于避免误诊为骨肉瘤等恶性转化非常重要。建议进行活检以及采用CT、MRI和骨闪烁显像等先进的影像学检查方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc7d/7163286/a05064e27a7f/gr1.jpg

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