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母子二人患不同型营养不良型大疱性表皮松解症 被引量：4

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摘要 营养不良型大疱性表皮松解症（dystrophic epidermolysis bullosa，DEB）是一类以皮肤轻微摩擦后发生水疱、瘢痕愈合、甲营养小良以及粟丘疹形成为特征的常染色体显性或隐性遗传性皮肤病[1]。现将我科诊治的母子二人患DEB不同亚型即痒疹样营养不良型大疱性表皮松解症（dystrophic epidermolysis bullosa，pruriginosa，DEB-Pr）和广泛型显性遗传营养不良刊大疱性表皮松解症一色丘疹样型（dystrophic epidermolysis bullosa Pasini，DEB-P）病例报告如下。
作者 张希琳 毕新岭 顾军 张勇
机构地区 第二军医大学长海医院皮肤科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2013年第12期761-763,共3页 Journal of Clinical Dermatology
关键词 大疱性表皮松解症 营养不良型
分类号 R758.59 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献20

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二级参考文献11

  • 1Lee JY,Pulkkinen L,Liu HS,et al.A glycine-to-arginine substitution in the triple-hellcal domain of type VⅡ collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa[J].J Invest Dermatol,1997,108(6):947-949.
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共引文献3

同被引文献25

  • 1姜薇,孙莹,赵俊郁,孙笑,史春艳,卜定方,朱学骏.Hallopeau-Siemens型营养不良型大疱性表皮松解症一例产前诊断[J].中华皮肤科杂志,2006,39(2):80-82. 被引量：6
  • 2Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermol- ysis bullosa: updated recommendations on diagnosis and classification [J]. J Am Acad Dermatol, 2014, 70(6) :1103 -1126.
  • 3Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa[J]. Exp Dermatol, 2008, 17(7) :553 -568.
  • 4Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features [ J ]. Dernaatol Clin, 2010, 28 ( 1 ) : 107 - 114.
  • 5Fassihi H, Eady RA, Mellerio JE, et al. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience [ J ]. Br J Dermatol, 2006,154(1) : 106 -113.
  • 6Hayashi M, Kawaguchi M, Hozumi Y, et al. Dystrophic epidermolysis bullosa pruriginosa of elderly onset[J]. J Dermatol, 2011, 38 (2) : 173 - 178.
  • 7van den Akker PC, Jonkman MF, Rengaw T, et al. The intemational dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations [J]. HumMutat, 2011, 32(10):1100-1107.
  • 8Murata T, Masunaga T, Ishiko A, et al. Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations[ J]. Arch Dermatol Res, 2004, 295 (10) : 442 -447.
  • 9Gardella R, Castiglia D, Posteraro P, et al. Genotype-phenotype cor- relation in Italian patients with dystrophic epidermolysis bullosa[ J]. J Invest Dermatol, 2002, 119 (6) : 1456 - 1462.
  • 10Toyonaga E, Nishie W, Komine M, et al. Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa [J]. Br J Dermatol, 2015, 172(4) :1141 - 1144.

引证文献4

二级引证文献4

临床皮肤科杂志
2013年 第12期

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