1. Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy)
- Author
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Lucio Calcagnile, Rita Sorrentino, Francesco Feletti, Sara Piciucchi, Antonino Vazzana, Mirko Traversari, Elisabetta Cilli, Gregorio Oxilia, Robin N. M. Feeney, Giulio Catalano, Sara De Fanti, Giorgio Gruppioni, Stefano Benazzi, Donata Luiselli, Emanuela Cristiani, L. Saragoni, Enrico Petrella, Maria Cristina Serrangeli, Mirko Traversari, Maria Cristina Serrangeli, Giulio Catalano, Enrico Petrella, Sara Piciucchi, Francesco Feletti, Gregorio Oxilia, Emanuela Cristiani, Antonino Vazzana, Rita Sorrentino, Sara De Fanti, Donata Luiselli, Lucio Calcagnile, Luca Saragoni, Robin N.M. Feeney, Giorgio Gruppioni, Elisabetta Cilli, and Stefano Benazzi
- Subjects
Osteochondroma ,Adult ,Male ,Archeology ,Pathology ,medicine.medical_specialty ,Probable Case ,Context (language use) ,Fibrous Dysplasia, Polyostotic ,Pathology and Forensic Medicine ,Pseudo-tumor, Developmental anomaly, Ancient DNA, Para-functional facets ,Ossuary ,Medicine ,Craniofacial Fibrous Dysplasia ,Humans ,0601 history and archaeology ,Cemeteries ,Pathological ,Osteosarcoma ,060101 anthropology ,060102 archaeology ,business.industry ,Fibrous dysplasia ,History, 19th Century ,06 humanities and the arts ,Radiological examination ,History, 20th Century ,medicine.disease ,Osteitis Deformans ,Ancient DNA ,Amino Acid Substitution ,Italy ,Mutation ,business ,Tomography, X-Ray Computed - Abstract
Objective To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. Materials A skeletonized cranium and mandible recovered from an ossuary in 2014. Methods Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. Result The skeleton is believed to be an adult male. Differential diagnoses include Paget's disease, McCune-Albright syndrome, osteochondroma and osteosarcoma. The radiographic findings, along with the solitary nature of the lesions, are strong evidence for the diagnosis of fibrous dysplasia (FD). Genetic analysis further revealed a frequency of ˜1% of mutant alleles with the R201C substitution, one of the post-zygotic activating mutation frequently associated with FD. Conclusions The multi-analytical method employed suggests a diagnosis of monostotic form of FD. The diagnostic design incorporates multiple lines of evidence, including macroscopic, histopathological, and genetic analyses. Significance Through the use of a multi-analytic approach, robust diagnoses can be offered. This case serves as one of the oldest examples of FD from an historical context. The genetic mutation detected, associated with FD, has not been previously reported in historical/ancient samples.
- Published
- 2018