Objective

This work aims to discuss the difficulties in diagnosing osteosclerotic changes in skeletonized individuals and to raise awareness of osteosclerotic dysplasias as a group of rare ancient diseases.

Materials

The skull of a 62-year-old male individual from the International Exchange Skull Collection, curated by the University of Coimbra, who died in 1928 presenting albuminous nephritis (Bright disease)/uraemia as the registered cause of death.

Methods

The skull was macroscopically and radiologically examined and bone elemental analysis was investigated. The genealogy and medical records of the individual were also searched.

Results

The lesions are in accordance with an osteosclerotic process possibly pointing to osteosclerosis, osteosclerotic metaphyseal dysplasia, or dysosteosclerosis, but osteoclasia with hyperphosphatasia, endosteal hyperostosis, sclerosteosis, or osteopathia striata with cranial sclerosis cannot be ruled out.

Conclusions

Representativeness of the skeleton is a crucial feature in diagnosing rare diseases and, to avoid a misdiagnosis, the final diagnosis should include a group of diseases rather than a definite disease.

Significance

Difficulties in diagnosing rare diseases are discussed and best approaches in the study osteosclerotic dysplasias in skeletonized individuals are offered in the light of current clinical knowledge.

Limitations

The absence of the postcranial skeleton and of pathognomonic lesions associated with osteosclerotic dysplasias limits diagnosis. Although rare diseases often have a genetic basis, specific genetic testing for the diagnosis of rare diseases in paleopathological cases are not yet available.

Suggestions for further research

Future genetic studies might help narrow down the diagnosis.

中文翻译：

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鉴别诊断男性颅骨弥漫性硬化症（葡萄牙科英布拉 20 世纪初）：一种用于识别骨骼化个体骨硬化发育不良的多方法方法

客观的

这项工作旨在讨论诊断骨骼化个体骨硬化变化的困难，并提高人们对骨硬化发育不良作为一组罕见的古老疾病的认识。

材料

科英布拉大学管理的国际交流头骨收藏中的一名 62 岁男性个体的头骨，他于 1928 年去世，登记的死因是蛋白性肾炎（Bright 病）/尿毒症。

方法

头骨进行了宏观和放射学检查，并研究了骨元素分析。还搜索了个人的家谱和医疗记录。

结果

病变符合骨硬化过程，可能指向骨硬化、骨硬化干骺端发育不良或骨硬化异常，但不能排除伴有高磷酸酯酶症的破骨症、骨内膜肥厚、硬化症或伴有颅骨硬化的骨病纹状体。

结论

骨骼的代表性是诊断罕见病的一个关键特征，为了避免误诊，最终的诊断应该包括一组疾病而不是一个明确的疾病。

意义

讨论了诊断罕见疾病的困难，并根据当前的临床知识提供了研究骨骼化个体骨硬化发育不良的最佳方法。

限制

颅后骨骼缺失和与骨硬化发育不良相关的特征性病变限制了诊断。尽管罕见病通常具有遗传基础，但目前尚无用于诊断古病理病例中罕见病的特定基因检测。

进一步研究的建议

未来的基因研究可能有助于缩小诊断范围。