| CASE REPORT |
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| Year : 2018 | Volume
: 6
| Issue : 3 | Page : 59-64 |
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Unilateral cherubism in a family with a history of bilateral cherubism: Confirmed by SH3BP2 mutation
John J Frazier1, Shyam Kishor Sah2, Ernst J Reichenberger2, Hui Liang3
1 Department of Diagnostic Sciences, Oral and Maxillofacial Radiology, Louisiana State University Health, School of Dentistry, New Orleans, Louisiana, USA
2 Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, Institute for Systems Genomics, UconnHealth, Farmington, Connecticut, USA
3 Department of Oral and Maxillofacial Radiology, Texas A & M University College of Dentistry, Dallas, Texas, USA
Correspondence Address:
John J Frazier
School of Dentistry, Louisiana State University Health, 1100 Florida Ave., New Orleans 70119, Louisiana
USA
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jomr.jomr_30_18
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Cherubism is an autosomal dominant fibro-osseous disease of childhood that is more common in males and is characterized by a painless bilateral expansion of the mandible and/or maxilla. The disease progresses through puberty and then stabilizes or regresses. It has been mapped to chromosome 4p16.3 with a pathogenesis attributed to a mutation of the SH3BP2 gene. Heterozygous cherubism mutations occur either as de novo mutations or are inherited as an autosomal dominant trait. Except for extremely rare cases, cherubism is always bilateral. Treatment is generally “watchful waiting” but surgical intervention may be considered. We present a case of unilateral cherubism in a family with a history of bilateral cherubism. To the best of our knowledge, this is the first documented case of unilateral cherubism with the SH3BP2 mutation.
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