Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy)

• Published in: International journal of paleopathology 2019-06, Vol.25, p.1-8
• Main Authors: Traversari, Mirko, Serrangeli, Maria Cristina, Catalano, Giulio, Petrella, Enrico, Piciucchi, Sara, Feletti, Francesco, Oxilia, Gregorio, Cristiani, Emanuela, Vazzana, Antonino, Sorrentino, Rita, De Fanti, Sara, Luiselli, Donata, Calcagnile, Lucio, Saragoni, Luca, Feeney, Robin N M, Gruppioni, Giorgio, Cilli, Elisabetta, Benazzi, Stefano
• Format: Article
• Language: English
• Subjects: Adult; Amino Acid Substitution; Cemeteries - history; Craniofacial Fibrous Dysplasia - diagnostic imaging; Craniofacial Fibrous Dysplasia - genetics; Craniofacial Fibrous Dysplasia - history; Craniofacial Fibrous Dysplasia - pathology; Fibrous Dysplasia, Polyostotic - diagnostic imaging; Fibrous Dysplasia, Polyostotic - history; Fibrous Dysplasia, Polyostotic - pathology; History, 19th Century; History, 20th Century; Humans; Italy; Male; Mutation; Osteitis Deformans - diagnostic imaging; Osteitis Deformans - pathology; Osteosarcoma - diagnostic imaging; Osteosarcoma - history; Osteosarcoma - pathology; Tomography, X-Ray Computed - history
• ISSN: 1879-9817; 1879-9825
• DOI: 10.1016/j.ijpp.2019.03.003

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. A skeletonized cranium and mandible recovered from an ossuary in 2014. Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. 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. 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. 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.