Objective

To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.

Materials

A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus.

Methods

Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing.

Results

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.

Conclusion

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.

Significance

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.

Limitations

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.

Suggestions for further research

Retrospective and large-scale studies of radiographs from other research in past populations.

中文翻译：

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骨质疏松症相关疾病（Buschke Ollendorff 综合征）中的斑点骨骼：从实验室到现场识别这种罕见疾病

客观的

以临床病例为例，改善过去人群中骨质疏松症的鉴别诊断。

材料

一名患者在发现结缔组织痣后转诊到我们的遗传服务中心，怀疑患有 Buschke Ollendorff 综合征。

方法

来自不同身体区域的放射图像伴随着使用下一代测序的遗传研究。

结果

在长骨的骨骺和干骺端以及骨盆中发现S mall圆形至椭圆形硬化病变。这些病变呈双侧分布，边缘清晰，符合 Buschke Ollendorff 综合征的特征，骨表现骨质疏松症。LEMD3上的杂合突变(NM_001167614:c.1918 + 1G > C) 通过下一代测序鉴定。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。

结论

已经证明，当前的罕见疾病病例如何可以提供有用的工具来改善古代骨骼中这种疾病的鉴别诊断。

意义

这项工作强调了对将临床研究与古病理学相结合的多学科平台的巨大需求，以便成功解决过去对罕见疾病的研究。

限制

由于 OPK 只能通过 X 射线检测，因此只有在将 X 光片用于其他目的时才能识别出这种骨病变的疑似病例。

进一步研究的建议

对过去人群中其他研究的 X 光片进行回顾性和大规模研究。