Abstract
Objective: To outline the importance of accurate diagnosis in ancient rare diseases by presenting a possible case of Langerhans-cell histiocytosis.
Materials: Skeletal elements from a well-preserved skeleton of a nine to eleven-year-old, probably female child who lived around 300–400 AD Late Roman Neuburg / Donau (Germany).
Methods: Macroscopic, radiologic, light and scanning-electron microscopic and physical techniques were used.
Results: Resorptive defects, particularly in the cranium, but also in the left hip bone and the right femur, suggest the presence of Langerhans-cell histiocytosis macroscopically and radiologically. The presence of morphological changes along the edges of osteolytic lesions and in the diploic spaces appear to be post-mortem artifacts based on microscopic investigation and elemental analysis.
Conclusions: Re-evaluation of morphological structures and elemental constitution of lesions is critical to differential diagnosis. In the case examined here, the identification of post-mortem structures rules out the former diagnosis of Langerhans-cell histiocytosis. Re-evaluation of cases of rare diseases require applying a range of methods during the analysis, as every single case makes a difference in the numbers of this very small group of diseases.
Significance: This study emphasizes the importance of utilizing different analytical techniques to avoid false diagnoses.
Limitations: Not all morphological features can reliably be diagnosed using microscopic and elemental
techniques.
Suggestions for Further Research: In the case of rare diseases that are difficult to diagnose, the widest possible spectrum of techniques should always be used, particularly microscopy.