Autosomal dominant gigantiform cementoma associated with bone fractures.
Here, we report a family with gigantiform cementomas, bone fractures, and autosomal dominant inheritance. Lesions are composed of benign, lobulated, calcified masses resembling cementum. Identification of a COL1A2 mutation in one patient was a polymorphism of no pathological significance. The subject of gigantiform cementomas and the associated bone disorder is both confusing and complex. Reported familial instances indicate genetic heterogeneity with (1) osteopenia and bone fractures, (2) one form of osteogenesis imperfecta, and (3) a polyostotic diaphyseal bone disorder.
Moshref
Mohammad
M
Department of Oral and Maxillofacial Pathology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Khojasteh
Arash
A
Kazemi
Bahram
B
Roudsari
Mohsen Vahid
MV
Varshowsaz
Masood
M
Eslami
Behnam
B
D000328:Adult; D002485:Cementoma / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005190:Family; D050723:Fractures, Bone / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007573:Jaw Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics; D010375:Pedigree; D011859:Radiography