Mirko Traversari1, Maria Cristina Serrangeli2, Giulio Catalano3, Enrico Petrella4, Sara Piciucchi4, Francesco Feletti5, Gregorio Oxilia3, Emanuela Cristiani6, Antonino Vazzana3, Rita Sorrentino7, Sara De Fanti8, Donata Luiselli3, Lucio Calcagnile9, Luca Saragoni10, Robin N M Feeney11, Giorgio Gruppioni3, Elisabetta Cilli3, Stefano Benazzi12. 1. Department of Cultural Heritage, University of Bologna, via degli Ariani 1, 48121, Ravenna, Italy. Electronic address: mirko.traversari2@unibo.it. 2. Department of Cultural Heritage, University of Bologna, via degli Ariani 1, 48121, Ravenna, Italy; UCD School of Medicine, Health Science Centre, University College Dublin, Belfield, Dublin 4, Ireland. 3. Department of Cultural Heritage, University of Bologna, via degli Ariani 1, 48121, Ravenna, Italy. 4. Department of Radiology, AUSL Romagna, Morgagni-Pierantoni city hospital, via Carlo Forlanini 34, 47121, Forlì, Italy. 5. Department of Diagnostic Imaging Ausl Romagna, Santa Maria delle Croci Hospital, Viale Randi, 5, 48121 Ravenna, Italy. 6. Department of Oral and Maxillofacial Sciences, School of Dentistry, Sapienza University of Rome, Via Caserta, 6, 00161 Rome. 7. Department of Cultural Heritage, University of Bologna, via degli Ariani 1, 48121, Ravenna, Italy; Department of Biological, Geological and Environmental Sciences, University of Bologna, via Selmi 3, Bologna, Italy. 8. Department of Biological, Geological and Environmental Sciences, University of Bologna, via Selmi 3, Bologna, Italy. 9. CEDAD - CEnter for DAting and Diagnostics Department of Mathematics and Physics "Ennio De Giorgi", University of Salento and INFN-National Institute for Nuclear Physics, Via Monteroni, 73100, Lecce, Italy. 10. Department of Pathological Anatomy, AUSL Romagna, Morgagni-Pierantoni city hospital, via Carlo Forlanini 34, 47121, Forlì, Italy. 11. UCD School of Medicine, Health Science Centre, University College Dublin, Belfield, Dublin 4, Ireland. 12. Department of Cultural Heritage, University of Bologna, via degli Ariani 1, 48121, Ravenna, Italy; Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103, Leipzig, Germany.
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.
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.