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Abstract：
To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.
A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus.
Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing.
Small circular-to-ellipsoid sclerotic lesions were found in the epiphysis and metaphysis of long bones, as well as in the pelvis. These lesions were bilaterally distributed and with well-defined margins, compatible with the characteristics of Buschke Ollendorff Syndrome, bone manifestation osteopoikilosis. A heterozygous mutation on LEMD3 (NM_001167614:c.1918 + 1G > C) was identified by next-generation sequencing. Based on this confirmed case, we have discussed the most probable causes of similar bone lesions found in the archaeological record.
It has been demonstrated how a current case of a rare disease can provide useful tools to improve the differential diagnosis of this disease in ancient skeletons.
This work underlines the great need for multidisciplinary platforms that integrates clinical research into paleopathology in order to successfully address the study of rare diseases from the past.
Since OPK is only detected by X-rays, suspected cases of this bone lesion will only be identified when radiographs are taken for other purposes.
Retrospective and large-scale studies of radiographs from other research in past populations.
A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus.
Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing.
Small circular-to-ellipsoid sclerotic lesions were found in the epiphysis and metaphysis of long bones, as well as in the pelvis. These lesions were bilaterally distributed and with well-defined margins, compatible with the characteristics of Buschke Ollendorff Syndrome, bone manifestation osteopoikilosis. A heterozygous mutation on LEMD3 (NM_001167614:c.1918 + 1G > C) was identified by next-generation sequencing. Based on this confirmed case, we have discussed the most probable causes of similar bone lesions found in the archaeological record.
It has been demonstrated how a current case of a rare disease can provide useful tools to improve the differential diagnosis of this disease in ancient skeletons.
This work underlines the great need for multidisciplinary platforms that integrates clinical research into paleopathology in order to successfully address the study of rare diseases from the past.
Since OPK is only detected by X-rays, suspected cases of this bone lesion will only be identified when radiographs are taken for other purposes.
Retrospective and large-scale studies of radiographs from other research in past populations.
摘要：
以临床病例为例，以这种罕见疾病为例，提高过去人群中骨质疏松的鉴别诊断。
一名患者在发现结缔组织痣后，因疑似BuschkeOllendorff综合征转诊至我们的基因服务机构。
来自不同身体区域的放射学图像伴随着使用下一代测序的遗传研究。
在长骨的骨phy和干phy端发现了小的圆形至椭圆形硬化病变，以及骨盆。这些病变双侧分布，边缘明确，符合BuschkeOllendorff综合征的特征，骨表现为骨质疏松。通过下一代测序鉴定LEMD3上的杂合突变(NM_001167614:c.1918+1G>C)。根据这个确诊病例,我们讨论了考古记录中发现的类似骨骼病变的最可能原因。
已经证明了当前罕见疾病的病例如何提供有用的工具来改善古代骨骼中这种疾病的鉴别诊断。
这项工作强调了对将临床研究整合到古病理学中的多学科平台的巨大需求，以便成功解决过去罕见疾病的研究。
由于OPK只能通过X射线检测到，此骨病变的疑似病例只有在为其他目的拍摄X光片时才能识别。
对过去人群中其他研究的X射线照片进行回顾性和大规模研究。
一名患者在发现结缔组织痣后，因疑似BuschkeOllendorff综合征转诊至我们的基因服务机构。
来自不同身体区域的放射学图像伴随着使用下一代测序的遗传研究。
在长骨的骨phy和干phy端发现了小的圆形至椭圆形硬化病变，以及骨盆。这些病变双侧分布，边缘明确，符合BuschkeOllendorff综合征的特征，骨表现为骨质疏松。通过下一代测序鉴定LEMD3上的杂合突变(NM_001167614:c.1918+1G>C)。根据这个确诊病例,我们讨论了考古记录中发现的类似骨骼病变的最可能原因。
已经证明了当前罕见疾病的病例如何提供有用的工具来改善古代骨骼中这种疾病的鉴别诊断。
这项工作强调了对将临床研究整合到古病理学中的多学科平台的巨大需求，以便成功解决过去罕见疾病的研究。
由于OPK只能通过X射线检测到，此骨病变的疑似病例只有在为其他目的拍摄X光片时才能识别。
对过去人群中其他研究的X射线照片进行回顾性和大规模研究。
