原发性红斑肢痛症1例报告并文献复习  

Primary erythromelalgia: a case report and literature review

作　　者：沈小钰[1] 殷蕾[1] 王剑[1] 周云芳[1] 沈永年[1] 应大明[1] 黄荣魁[1] 陈惠金[1] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心罕见病疑难病特需门诊上海200127

出　　处：《临床儿科杂志》2012年第10期984-987,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨原发性红斑肢痛症(PEM),一种罕见的常染色体显性单基因遗传病的主要临床特征及诊断治疗方法。方法整理分析1例10岁PEM女童的临床表现、SCN9A基因分析和随访资料,并进行相关文献复习。结果患儿双下肢端烧灼样疼痛4年伴阵发加剧,皮肤呈暗红色,肤温高,局部皮肤溃疡结痂,有阳性家族史。基因分析证实存在SCN9A基因突变。经口服慢心律治疗后,症状渐改善。结论 PEM以双下肢端皮肤发红、肤温升高和剧烈烧灼样疼痛为特点。可通过基因分析确诊。治疗方法多样但疗效不一。慢心律可作为治疗PEM的推荐用药。症状无改善者可试行交感神经节阻滞治疗,部分有效。Objective To explore the main clinical characteristics, diagnosis and treatment of primary erythromelalgia （PEM）, a rare autosomal dominant inherited disease. Methods The clinical manifestation, data of mutational analysis of the SCN9A gene and the follow-up record were collected and analyzed for a ten-year-old girl with PEM, and the literatures that are relevant to PEM were reviewed. Results The patient had symptoms of redness, increased skin temperature and pain in her both lower extremities with intermittent severe burning pain, skin ulcers and scar formation for four years. She had a positive family history and her female cousin had similar symptoms. The mutation of SCN9A gene was identified in this case. Her symptoms gradually improved after she was treated with mexiletine. Conclusions PEM is characterized by erythema, increased skin temperature and intermittent burning pain in the distal extremities. It can be diagnosed by the mutational analysis of SCN9A gene. There are various therapeutic approaches to PEM but their effectiveness is not certain. Mexiletine can be recommended as the medication for PEM. Sympathetic block is partially effective in treating PEM laatients whohas not responsed to other treatments.

关 键 词：红斑肢痛症 慢心律 交感神经节阻滞 基因诊断 

分 类 号：R747.4[医药卫生—神经病学与精神病学]