The skeletal remains of a male aged 45-55 years, displaying several bone anomalies, were uncovered from a cemetery of Alghero, referable to the plague outbreak of 1582-1583 AD. The skeleton has a stature of about 165 cm. Although the skull bones show a high degree of fragmentation and are poorly preserved, they appear to be severely thickened. An enlargement of the diaphyses of the clavicles, humeri, ulnae, radii, femora, tibiae and fibulae was bilaterally observed. The widening is extended to the metaphyseal region, while the epiphyses are normal. Radiograph and Computed Tomography showed increased irregular cortical thickness and narrowing of the medullary cavity at the level of the upper and lower limbs. The individual was affected by a sclerosing bone dysplasia, a genetic disease characterised by increased bone density. Differential diagnosis led to identify a case of Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia. This is a rare genetic disorder characterized by anomalies of intramembranous bone formation. Approximately 200 cases have been reported in modern literature, whereas no paleopathological evidence has been described so far.
A case of Camurati-Engelmann disease from 16th century Sardinia (Italy)
GIUFFRA, VALENTINA;CARAMELLA, DAVIDE;FORNACIARI, GINO;
2015-01-01
Abstract
The skeletal remains of a male aged 45-55 years, displaying several bone anomalies, were uncovered from a cemetery of Alghero, referable to the plague outbreak of 1582-1583 AD. The skeleton has a stature of about 165 cm. Although the skull bones show a high degree of fragmentation and are poorly preserved, they appear to be severely thickened. An enlargement of the diaphyses of the clavicles, humeri, ulnae, radii, femora, tibiae and fibulae was bilaterally observed. The widening is extended to the metaphyseal region, while the epiphyses are normal. Radiograph and Computed Tomography showed increased irregular cortical thickness and narrowing of the medullary cavity at the level of the upper and lower limbs. The individual was affected by a sclerosing bone dysplasia, a genetic disease characterised by increased bone density. Differential diagnosis led to identify a case of Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia. This is a rare genetic disorder characterized by anomalies of intramembranous bone formation. Approximately 200 cases have been reported in modern literature, whereas no paleopathological evidence has been described so far.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
