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Shoulder exostoses in hereditary multiple exostoses: probability of surgery and malignant change.
MedLine Citation:
PMID:  21106401     Owner:  NLM     Status:  In-Data-Review    
HYPOTHESIS: Patients with hereditary multiple exostoses (HME) in association with palpable shoulder exostoses are more severely affected by their disease.
MATERIALS AND METHODS: From a prospective database of 78 families with HME identified, 172 patients were identified. Demographic details, deformity, functional scores, standing height, number of exostoses, site, exostosin genotype (EXT1 and EXT2), surgical excision, and malignant change were recorded. Nonparametric tests were used to compare patients with and without shoulder exostoses (clavicle, scapula, and humerus).
RESULTS: There were 5361 palpable exostoses, of which 14% were of the shoulder and were present in 145 patients (84.3%). There was a younger mean age (26.8 vs 37.9 years) and a male predominance in those individuals with shoulder exostoses (P = .0005). Patients with shoulder exostoses had significantly worse disease (P < .05). EXT1 mutations were more commonly observed in those with shoulder exostoses (odds ratio [OR], 20.6; 95% confidence interval [CI], 11.2-28.5; P = .001). The likelihood of surgical excision was greater in those with shoulder exostoses (OR, 2.8) and highest for scapular exostoses (OR, 3.7). Risk factors for surgical excision of shoulder exostoses were younger age (P = .03) and male gender (P < .008). Seven chondrosarcomas occurred, 2 scapular and a proximal humeral. The probability of malignant change of was highest for palpable scapular exostoses relative to any other anatomic site (OR, 12.3; P = .05).
CONCLUSION: Shoulder exostoses have a male predominance, and patients are more likely to have an EXT1 mutation. The presence of shoulder exostoses could serve as a tool to identify those individuals at high probability of malignant change.
DISCUSSION: The existence of shoulder exostoses identifies those individuals with a high probability of having an EXT1 genotype (OR 20.6, 94.4% sensitivity, 84.8% positive predictive value), which is associated with sarcomatous change.
Nicholas David Clement; Che E Ng; Daniel E Porter
Publication Detail:
Type:  Journal Article     Date:  2010-11-24
Journal Detail:
Title:  Journal of shoulder and elbow surgery / American Shoulder and Elbow Surgeons ... [et al.]     Volume:  20     ISSN:  1532-6500     ISO Abbreviation:  J Shoulder Elbow Surg     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-01-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206499     Medline TA:  J Shoulder Elbow Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  290-4     Citation Subset:  IM    
Copyright Information:
Crown Copyright © 2011. Published by Mosby, Inc. All rights reserved.
Department of Orthopaedics and Trauma, The Royal Infirmary of Edinburgh, Edinburgh, United Kingdom.
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