Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender
Abstract
Background and aims
We describe the novel anatomical distribution of exostoses in patients with hereditary multiple exostoses according to their gender and genotype.
Methods and results
A prospective database of 143 patients from 65 families with hereditary multiple exostoses was compiled. Patient demographics, genotype and number of exostoses according to anatomical site were recorded. The hand was affected by the greatest proportion of exostoses for both EXT1 (19%) and EXT2 (14%) genotypes and was the most prevalent site for exostoses in patients with an EXT1 genotype (92%). Patients with an EXT1 genotype had a significantly greater number of exostoses compared to those with an EXT2 genotype (2680 vs. 1828, p = 0.006); however, this was only significantly different for 10 of the 19 anatomical regions examined. Male patients with an EXT1 genotype had a significantly (p < 0.05) greater number of exostoses affecting their hands, distal radius, proximal humerus, scapular and ribs compared to female patients with the same genotype and males with an EXT2 genotype.
Conclusion
The anatomical distribution of exostoses varies according to genotype and gender; however, the reason for this difference is not clear and may relate to different biochemical pathways.
Get full access to this article
View all access and purchase options for this article.
References
1. Schmale GA, Conrad EU III, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994; 76: 986–992.
2. Pedrini E, Jennes I, Tremosini M, et al. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of “protective” and “risk” factors. J Bone Joint Surg Am 2011; 93: 2294–2302.
3. Solomon L. Hereditary multiple exostosis. J Bone Joint Surg Am 1963; 45: 292–304.
4. Shapiro F, Simon S, Glimcher MJ. Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. J Bone Joint Surg Am 1979; 61: 815–824.
5. Jones KB. Glycobiology and the growth plate: current concepts in multiple hereditary exostoses. J Pediatr Orthop 2011; 31: 577–586.
6. Vink GR, White SJ, Gabelic S, et al. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet 2005; 13: 470–474.
7. White SJ, Vink GR, Kriek M, et al. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 2004; 24: 86–92.
8. Porter DE, Lonie L, Fraser M, et al. Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 2004; 86: 1041–1046.
9. Alvarez CM, De Vera MA, Heslip TR, et al. Evaluation of the anatomic burden of patients with hereditary multiple exostoses. Clin Orthop Relat Res 2007; 462: 73–79.
10. Porter DE, Emerton ME, Villanueva-Lopez F, et al. Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses. J Pediatr Orthop 2000; 20: 246–250.
11. Hennekam RC. Hereditary multiple exostoses. J Med Genet 1991; 28: 262–266.
12. Cates HE, Burgess RC. Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. J Hand Surg Am 1991; 16: 127–132.
13. Sandell LJ. Multiple hereditary exostosis, EXT genes, and skeletal development. J Bone Joint Surg Am 2009; 91(Suppl 4): 58–62.
14. Bovee JV. Multiple osteochondromas. Orphanet J Rare Dis 2008; 3: 3–3.
15. Alvarez C, Tredwell S, De VM, et al. The genotype-phenotype correlation of hereditary multiple exostoses. Clin Genet 2006; 70: 122–130.
Cite article
Cite article
Cite article
OR
Download to reference manager
If you have citation software installed, you can download article citation data to the citation manager of your choice
Information, rights and permissions
Information
Published In
Article first published online: January 10, 2014
Issue published: February 2014
Keywords
PubMed: 24413927
Authors
Metrics and citations
Metrics
Article usage*
Total views and downloads: 123
*Article usage tracking started in December 2016
Articles citing this one
Receive email alerts when this article is cited
Web of Science: 23 view articles Opens in new tab
Crossref: 26
- Osteocondroma solitario y osteocondromatosis múltiple
- The Perils of Sleeper Plates in Multiple Hereditary Exostosis: Tibial ...
- Structural basis for heparan sulfate co-polymerase action by the EXT1–...
- Osteochondroma formation is independent of heparanase expression as re...
- Musculoskeletal System
- Hereditary Multiple Exostoses—A Review of the Molecular Background, Di...
- Hemothorax and Pneumothorax Secondary to Costal Involvement in Heredit...
- Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valg...
- The Incidence of Vertebral Exostoses in Multiple Hereditary Exostoses ...
- The natural history of multiple osteochondromas in a large Italian coh...
- Laparoscopic resection of an exostosis of the os pubis in a horse
- Multiple Hereditary Exostoses: Genetics, Multimodality Imaging Feature...
- La maladie des exostoses multiples
- Is Routine Spine MRI Necessary in Skeletally Immature Patients With MH...
- A novel splice mutation induces exon skipping of the EXT1 gene in pati...
- Effect of multiple hereditary exostoses on sports activity in children
- The pathogenic roles of heparan sulfate deficiency in hereditary multi...
- Hereditary multiple exostoses of the ribs as an uncommon cause of pneu...
- Signaling systems affecting the severity of multiple osteochondromas
- Current paediatric orthopaedic practice in hereditary multiple osteoch...
- A genotype-phenotype study of hereditary multiple exostoses in forty-s...
- Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinica...
- The impact of hereditary multiple exostoses on quality of life, satisf...
- Evidence-Based Treatment of Deformity in Multiple Osteochondromatosis
- Development of genu valgum after removal of osteochondromas from the p...
- Musculoskeletal System
Figures and tables
Figures & Media
Tables
View Options
Get access
Access options
If you have access to journal content via a personal subscription, university, library, employer or society, select from the options below:
loading institutional access options
SSP and SSR members can access this journal content using society membership credentials.
SSP and SSR members can access this journal content using society membership credentials.
Alternatively, view purchase options below:
Purchase 24 hour online access to view and download content.
Access journal content via a DeepDyve subscription or find out more about this option.
