Autosomal dominant gigantiform cementoma associated with bone fractures

Abstract

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.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

“…Other features noted in some families included heterotopic calcification in tendons that had suffered injury and fibro‐osseous dysplasia of the jaw. The association of fibro‐osseous dysplasia or cementoma of the jaw with OI has been noted previously …”

Recurring gnathodiaphyseal dysplasia in two Russian brothers

“…Since this early report, several other cases have been published 6,[9][10][11][12] . Some members of a family presenting with familial COD and non-traumatic fractures of long-bones 14 may also suffer from GDD.…”

Familial gigantiform cementoma: distinctive clinical features of a large Chinese pedigree

“…2,4,5,7-9 An autosomal dominant pattern of inheritance is usually found with variable phenotypic expression. 1,4,5,8,9 To our knowledge this is the first report of a large pedigree in China, and the tumour is characterised clinically by 3 distinctive growth phases: initial onset, rapid expansion, and suppression of growth. Its development typically starts in the first or second decade, followed by rapid and expansive growth, 4,8 and eventually stagnates in the fifth decade, even when untreated.…”

“…1,5,8,9 In our series 8 patients had multiple pathological long bone fractures (3-4/person) caused by minor trauma between the ages of 13 and 16, but no fractures before birth or after the age of 18. This differs from previous reports.…”