疼痛的胸壁肿胀:遗传性多发性外生骨瘤患儿的第一肋骨骨软骨瘤。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL BMJ Case Reports Pub Date : 2025-02-12 DOI:10.1136/bcr-2024-262619
Suraj Pai, K Ramachandra Kamath, Samaksh Dhawan, Saiprasad Sarvothama Baliga
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摘要

遗传性多发性外生骨病(HME)是一种常染色体显性遗传病。根据沃勒博士对利兹地区骨肿瘤登记处的审计,记录了90例胸骨原发性骨肿瘤,占登记处所有病例的4.5%。骨软骨瘤占肋骨肿瘤的8%,约占良性肋骨肿瘤的50%。患者表现为右锁骨上区慢性肿胀,肩部活动受限,经检查诊断为第一肋骨骨软骨瘤。手术治疗,切除第一肋骨肿瘤。该病例的骨软骨瘤切除后症状明显缓解,活动范围完全恢复。关于肋骨骨软骨瘤与综合征性疾病(即HME)的共同关联的假设也被发现适合于给定的病例。
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Painful chest wall swelling: First rib osteochondroma in a paediatric patient with Hereditary Multiple Exostoses.

Hereditary multiple exostoses (HME) is an autosomal dominant condition with variable penetrance. As per Dr Waller's audit of the Leeds regional bone tumour registry, 90 primary bone tumours of the thoracic skeleton were recorded, accounting for 4.5% of all cases in the registry. Osteochondromas represent 8% of rib tumours and approximately 50% of benign rib tumours. The patient presented with a chronic swelling in the right supraclavicular region with restricted shoulder motion and was diagnosed with osteochondroma of the first rib after evaluation. Surgical management by excision of the first rib tumour was done. Excision of the osteochondroma in the concerned case showed drastic symptomatic relief with complete recovery in range of motion. The hypothesis regarding common association of rib osteochondroma with a syndromic condition, namely HME, was also found to be fitting in the given case.

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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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