Document Detail


Clinical characteristics of hereditary multiple exostoses: A retrospective study of mainland chinese cases in recent 23 years.
MedLine Citation:
PMID:  24496678     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Hereditary multiple exostoses (HME) are an autosomal dominant skeletal disease with wide variations in clinical manifestations among different ethnic groups. This study investigated the epidemiology, clinical presentations, pathogenetic features and treatment strategies of HME in mainland China. We searched and reviewed the related cases published since 1990 by searching electronic databases, namely SinoMed database, Wanfang database, CNKI, Web of Science and PubMed as well as Google search engines. A total of 1051 cases of HME (male-to-female ratio 1.5:1) were investigated and the diagnosis was made in 83% before the age of 10 years. Approximately 96% patients had a family history. Long bones, ribs, scapula and pelvis were the frequently affected sites. Most patients were asymptomatic with multiple palpable masses. Common complications included angular deformities, impingement on neighbouring tissues and impaired articular function. Chondrosarcomas transformation occurred in 2% Chinese cases. Among the cases examined, about 18% had mutations in EXT1 and 28% in EXT2. Frameshift, nonsense and missense mutations represented the majority of HME-causing mutations. Diagnosis of HME was made based on the clinical presentations and radiological documentations. Most patients needed no treatment. Surgical treatment was often directed to remove symptomatic exostoses, particularly those of suspected malignancy degeneration, and correction of skeletal deformities. This study shows some variance from current literature regarding other ethnic populations and may provide valuable baseline assessment of the natural history of HME in mainland China.
Authors:
Xue-Ling Guo; Yan Deng; Hui-Guo Liu
Related Documents :
25399998 - Clinical applications of videoconferencing: a scoping review of the literature for the ...
8406168 - Carcinoid tumour of the gall bladder: two case reports and a review of published works.
24496678 - Clinical characteristics of hereditary multiple exostoses: a retrospective study of mai...
1156568 - An epidemiological study of occupational bladder tumours in the dye industry of japan.
24865498 - Noninvasive anaplastic thyroid carcinoma: report of a case and literature review.
21932698 - Peritoneal sarcoidosis: an unusual presentation and a brief review of the literature.
Publication Detail:
Type:  Journal Article     Date:  2014-02-06
Journal Detail:
Title:  Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban     Volume:  34     ISSN:  1672-0733     ISO Abbreviation:  J. Huazhong Univ. Sci. Technol. Med. Sci.     Publication Date:  2014 Feb 
Date Detail:
Created Date:  2014-02-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101169627     Medline TA:  J Huazhong Univ Sci Technolog Med Sci     Country:  China    
Other Details:
Languages:  eng     Pagination:  42-50     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Dynamics of interstitial calcium in rat myocardial ischemia reperfusion injury in vivo.
Next Document:  TGF-?1 precursor and CD8 are potential prognostic and predictive markers in operated breast cancer.