多发性外生性疾病

K. Janani
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摘要

多发性外生性增生是一种罕见的疾病。其特点是在长骨干骺端增生和发展大量骨肿胀,其形状和长度可能异常。它优先影响膝盖、肩膀、脚踝和手腕。这些病变仍无临床症状,但疼痛是患者的主要主诉。这种疾病的表型在病人之间差别很大。所有通过软骨内成骨形成的骨骼都会像长骨一样受到影响。有些定位是罕见的,但潜在的严重,如肋骨,脊柱或骨盆,因为靠近重要的结构。虽然罕见,但最可怕的并发症是转化为软骨肉瘤,需要密切监测。治疗方法可以是保守或手术。在功能障碍或畸形的情况下,可以进行治疗和切除手术。对疾病病理生理学的更深入了解使得考虑潜在的治疗靶点成为可能。我们报告一个罕见的病例髂骨定位,发现在青春期而不是童年。
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Multiple exostosis disease
Multiple exostosisdisease is a rare condition. It is characterized by the proliferation and the development of numerous bone swellings in the metaphysis of long bones with a possible abnormality in their shape and length. It preferentially affects the knees, shoulders, ankles and wrists. These lesions remain clinically asymptomatic, but the pain is the main complaint of patients. The phenotype of this disease varies greatly between patients. All bones that develop through endochondral ossification can be affected like long bones. Some localizations are rare but potentially serious such as the ribs, the spine or the pelvis due to the proximity to important structures. The most feared, although rare, complication is the transformation into chondrosarcoma, requiring a close monitoring. The treatment can be conservative or surgical. The treatment and excisional surgery may be indicated in the event of functional disorders or deformities.The greater knowledge of the pathophysiology of the disease makes it possible to consider potential therapeutic targets. We report a rare case with iliac bone localization, discovered in adolescence rather than childhood.
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