The most severe case of multiple osteochondromas in paleopathological record is from an Early Medieval burial site in the Venetian Lagoon

Abstract

In recent years, paleopathological cases from ancient contexts are being increasingly taken into account to reconstruct the clinical history of a number of diseases, in particular congenital ones, at times still featuring in the genes of present-day populations. The skeleton of a male (T97) with an estimated age-at-death of 40–45 years has been found in the Early Medieval phase of an archaeological site in the Venetian Lagoon (north-east Italy). Through the osteoarchaeological study, full skeletal CT, histopathological examination, and comparison with other case studies a diagnosis was made. It is now possible to provide a detailed evaluation of the most severe case of multiple osteochondromas (MO) ever to be documented by paleopathology. T97 currently appears to be the most severe case of MO ever to be attested from archaeological context. No skeletal remains documented so far, either in Italy or abroad, have revealed such a high number of osteochondromas and chondrosarcomas, i.e. malignant mutations. Moreover, the individual in question appears to have developed all the characteristic features of the pathology, resulting in a unicum in the international landscape. The present case of multiple osteochondroma is useful in understanding the natural clinical dynamics of this disease, providing for the first time a CT scan of a complete skeleton affected, as well as the survival of an individual with severe disabilities in a Medieval context.