摘要
目的探讨多发性神经纤维瘤的遗传特性、临床特点及诊断治疗的进展。方法报道1例胸壁多发性神经纤维瘤的病例资料、家系情况及病理结果，并复习文献。结果单凭影像学对胸壁多发性神经纤维瘤定性诊断较困难，最后确诊需病理组织学证实；目前尚无有效的疗法能够阻止或逆转神经纤维瘤的病程。结论多发性神经纤维瘤是一种常染色体显性遗传病，应对患者进行密切观察，定期检查，尽可能做到早发现、早治疗；应提高对胸壁多发性神经纤维瘤的认识，注意鉴别诊断，避免误诊。
Objective To discuss the genetic characteristics, clinical features, diagnosis and therapy of multiple neurofibroma. Methods Data of the case with multiple neurofibroma of thoracic wall and its relatives and pathologic results were reported respectively. Results It is difficult to diagnose multiple neurofibroma of thoracic wall qualitatively with imaging methods alone, and the final diagnosis should be confirmed by pathohistology. So far, there are not effective methods which can prevent or reverse the course of neurofibroma. Conclusion Multiple neurofibromatosis is an autosomal-dominant neurogenetic disease. It is necessary to make close observation and periodic inspection to the patients, try to treat the patients with early detection and early treatment. We should enhance the understanding of multiple neurofibroma of thoracic wall, pay attention to the differential diagnosis and avoid the misdiagnosis.
出处
《罕少疾病杂志》
2008年第3期11-14,共4页
Journal of Rare and Uncommon Diseases
关键词
多发性神经纤维瘤
胸壁
诊断
治疗
multiple neurofibromatoses thoracic wall diagnosis therapy
