title: A possible case of cherubism in a 17th-century Korean mummy.
abstract: Cherubism is a benign fibro-osseous disease of childhood limited specifically to the maxilla and mandible. The progressive replacement of the jaw bones with expansile multilocular cystic lesions causes eventual prominence of the lower face, and hence the classic "cherubic" phenotype reflecting variable extents of jaw hypertrophy. Histologically, this condition has been characterized as replacement of the normal bone matrix with multicystic pockets of fibrous stroma and osteoclastic giant cells. Because of radiographic features common to both, primarily the presence of multiloculated lucencies with heterogeneous "ground-glass" sclerosis on CT imaging, cherubism was long mistaken for a craniofacial subtype of fibrous dysplasia. In 1999, however, the distinct genetic basis for cherubism was mapped to chromosome 4p16.3 and the SH-3 binding protein SH3BP2. But while there are already three suspected cases of fibrous dysplasia amongst archaeological populations, no definitive cases of cherubism have yet been reported in historical populations. In the current study we describe micro- and macro-structural changes in the face of a 17th century Joseon Dynasty Korean mummy which may coincide with the clinic-pathologic and radiologic features of cherubism.
authors.affiliation: Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Israel
authors.initials: I
authors.lastname: Hershkovitz
authors.affiliation: Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Mark
authors.initials: M
authors.lastname: Spigelman
authors.affiliation: Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Sarig
authors.affiliation: Department of Dental Hygiene, Eulji University, Seongnam, Gyeonggi-do, Korea.
authors.forename: Do-Sun
authors.initials: DS
authors.lastname: Lim
authors.affiliation: Department of Diagnostic Radiology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: In Sun
authors.initials: IS
authors.lastname: Lee
authors.affiliation: Department of Anatomy, Seoul National University College of Medicine, Seoul, Korea; Institute of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Oh
authors.affiliation: Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Hila
authors.initials: H
authors.lastname: May
authors.affiliation: D-REAMS Radiocarbon Dating Laboratory, Weizmann Institute of Science, Rehovot, Israel.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Boaretto
authors.affiliation: Department of Anatomy, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Yi-Suk
authors.initials: YS
authors.lastname: Kim
authors.affiliation: Institute of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea; Department of Forensic Science, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Soong Deok
authors.initials: SD
authors.lastname: Lee
authors.affiliation: Department of Radiology, Carmel Medical Center, Haifa, Israel.
authors.forename: Nathan
authors.initials: N
authors.lastname: Peled
authors.affiliation: Department of Anatomy, Dankook University College of Medicine, Yongin-si, Gyeonggi-do, Korea.
authors.forename: Myeung Ju
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: Department of Radiology, Maimonides Medical Center, Brooklyn, New York, United States of America.
authors.forename: Talya
authors.initials: T
authors.lastname: Toledano
authors.affiliation: Department of Virology, Koret School of Veterinary Medicine, Hebrew University of Jerusalem, Rehovot, Israel.
authors.forename: Gila Kahila
authors.initials: GK
authors.lastname: Bar-Gal
authors.affiliation: Department of Anatomy, Seoul National University College of Medicine, Seoul, Korea; Institute of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Dong Hoon
authors.initials: DH
authors.lastname: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D001106:Archaeology; D002636:Cherubism / Q000175:diagnosis* / Q000266:history; D005260:Female; D049670:History, 17th Century; D006801:Humans; D009106:Mummies / Q000266:history; D056910:Republic of Korea; D055815:Young Adult
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