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原发性红斑性肢痛病 被引量：2

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摘要 原发性红斑性肢痛病（primary erythermalgia,PEM）是一种少见的常染色体显性遗传性疼痛异常性疾病,由Mitchell在1878年首次描述并命名.其典型的临床表现为儿童期开始反复出现热刺激或者运动后的对称性肢端红斑、充血和烧灼性疼痛,遇冷后症状可以部分缓解.
作者 林志淼 杨勇
机构地区 北京大学第一医院皮肤科
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2010年第9期670-671,共2页 Chinese Journal of Dermatology
关键词 红斑性肢痛病 原发性 常染色体显性遗传性 肢端红斑 临床表现 异常性 对称性 运动后
分类号 R747.4 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献15

  • 1Yang Y,Wang Y,Li S,et al.Mutations in SCN9A,encoding a sodium channel alpha subunit,in patients with primary erythermalgia.J Med Genet,2004,41 (3):171-174.
  • 2Dib-Hajj SD,Rush AM,Cummins TR,et al.Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.Brain,2005,128(Pt 8):1847-1854.
  • 3Drenth JP,Finley WH,Breedveld GJ,et al.The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.Am J Hum Genet,2001,68(5):1277-1282.
  • 4Zhang LL,Lin ZM,Ma ZH,et al.Mutation hotspots of SCN9A in primary erythermalgia.Br J Dermatol,2007,156(4):767-769.
  • 5Burns TM,Te Morsche RH,Jansen JB,et al.Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia.Br J Dermatol,2005,153(1):174-177.
  • 6Klugbauer N,Lacinova L,Flockerzi V,et al.Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.EMBO J,1995,14(6):1084-1090.
  • 7Cummins TR,Dib-hajj SD,Waxman SG.Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.J Neurosci,2004,24(38):8232-8236.
  • 8Han C,Lampert A,Rush AM,et al.Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.Mol Pain,2007,3:3.
  • 9Rush AM,Dib-Hajj SD,Liu S,et al.A single sodium channel mutation produces hyper-or hypoexcitability in different types of neurons.Proc Natl Acad Sci USA,2006,103(21):8245-8250.
  • 10Li Y,Lin Z,Ma Z,et al.A case of primary erythermalgia with prurigo.Clin Exp Dermatol,2009,34(7):e313-e314.

二级参考文献14

  • 1Michell SW.On a rare vaso-motor neurosis of the extremes,and on the maladies with which it may be confounded.Am J Med Sci,1878,76.
  • 2Drenth J,Finley WH,Breedveld GJ,et al.The primary erythermalgia susceptibility gene is located on chromosome 2q31-32.Am J Hum Genet,2001,68:1277～1282.
  • 3Yang Y,Wang Y,Li S,et al.Mutations in SCN9A,encoding a sodium channel alpha subunit,in patients with primary erythermalgia.J Med Genet,2004,41:171～174.
  • 4Han C,Rush AM,Dib-Hajj SD,et al.Sporadic onset of erythermalgia:a gain-of-function mutation in Nav1.7.Ann Neurol,2006,59:553～558.
  • 5Han C,Lampert A,Rush AM,et al.Temperature dependence of erythermalgia mutation L858F in sodium channel Nav1.7.BioMed Central,Molecular Pain,2007,3:3.
  • 6Zhang LL,Lin ZM,Ma ZH,et al.Mutation hotspots of SCN9A in primary erythermalgia.Bri J Dermat,2007,in press.
  • 7Waxman SG,Dib-Hajj SD.Erythermalgia:A hereditary pain syndrome enters the molecular era.Ann Neurology,2005,57:785～788.
  • 8Waxman SG.A channel sets the gain on pain.Nature,2006,444:831～832.
  • 9Nassar MA,Stirling LC,Mathews EA,et al.Nociceptor specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain.PNAS USA,2004,101:12706～12711.
  • 10Cox JJ,Reimann F,Nicholas AK,et al.An SCN9A channelopathy causes congenital inability to experience pain.Nature,2006,444:894～898.

共引文献1

同被引文献12

  • 1赵辨.临床皮肤病学[M].4版.南京:江苏科学技术出版社,2009:872 -873.
  • 2Michiels JJ, Drenth J, van Genderen PJ. Classification and di- agnosis of erythromelalgia and erythermalgia, 1995, 1111 ( 10 ) : 1365-4362.
  • 3Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit.in patients with primary ery- therumlgia[J]. J Med Genet, 2004, 41(3): 171-174.
  • 4Yuan Z, He C. Primary erythromelalgia with lenkonychia com- bined with ulcerations and infection by Monilia guilliermondii[J]. Kaohsiung J Med Sci, 2011, 27(3): 114-117.
  • 5Drenth JP, Michiels JJ. Erythmmelalgia and erythermalgia: diag- nostie differentiation[J]. Int J Dermatol, 1994, 33(6): 393-397.
  • 6Victoria Latessa. Erythromelalgia: a rare microvascular disease[J]. J Vasc Nurs, 2010, 28(2): 67-71.
  • 7Cook-Norris RH, Tollefson MM, Cruz-Inigo AE, et al. Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period[J]. J Am Acad Dermatol, 2011, 66(3): 416--423.
  • 8Kakizaki A, Fujimura T, Kambayashi Y, et al.Successful treat- ment of adult-onset erythromelalgia with steroid pulse and pre- gabalin[J].Case Rep Dermatol, 2012, 4(3): 242-246.
  • 9Cregg R, Cox JJ, Bennett DLH, et al. Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical proper- ties of mutant L858F NaV1.7 sodium channels[J]. Br J Pharma- col, 2014, 171(19): 4455-4463.
  • 10Choi JS, Zhang L, Dib-Hajj SD, et al. Mexiletine-responsive erythromelalgia due to a new Na(v)l.7 mutation showing use-de- pendent current fall-off[J]. Exp Neural, 2009, 216(2): 383-389.

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中华皮肤科杂志
2010年 第9期

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