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全身毛发受累的念珠形发1例 被引量:3

Generalized monilethrix: A case report
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摘要 报告1例21岁男性患者,自幼头发稀少,头部营养不良性秃发,全身毛发程度不一的串珠状改变或黑点状断发,伴毛囊角化性丘疹。光镜见典型串珠状改变。扫描电镜观察胸毛,一根毛小皮消失,一根存在,狭窄部见明显的纵嵴,纵沟。病理见毛囊稀少、萎缩。 A case of generalized monilethrix was reported. A 21 year old male patient presented dystrophic alopecia, variable beaded hair or black spotted broken hair with follicular keratosis all over the body. SEM of two chest hairs showed the absence of cuticle in one of the two examined . Longitudinal ridges and ditches were noted on the surface, especially on the narrow internodes. Histopathology of scalp showed sparse follicles, atrophic follicles without hair.
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2002年第3期181-183,共3页 Journal of Clinical Dermatology
关键词 全身性念珠形发 角蛋白基因 基因突变 毛发疾病 monilethrix, generalized keratin gene mutation
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参考文献2

  • 1叶仲夏 廉博.念球形发一例报道[J].中华皮肤科杂志,1959,7(3):199-199.
  • 2侯显曾 熊春萍.同胞念珠形发二例[J].中华皮肤科杂志,1995,28(6):419-419.

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同被引文献12

  • 1刘安,肖生祥,谭升顺,徐彦春,焦婷,刘艳,潘敏.毛发角蛋白的基因多态性在先天性念珠状发家系中的研究[J].中国现代医学杂志,2005,15(17):2577-2580. 被引量:5
  • 2李建国,李振鲁,王豫平,廖世秀,张守民.念珠状发家系毛发角蛋白6致病基因的检测[J].中华皮肤科杂志,2006,39(7):374-376. 被引量:6
  • 3侯显曾 熊春萍.同胞念珠形发二例[J].中华皮肤科杂志,1995,28(6):419-419.
  • 4Winter H, Rogers MA, Langbein L, et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet, 1997,16:372-374.
  • 5Winter H, Rogers MA, Gebhardt M, et al. A new mutation in the type'Ⅱ hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet, 1997,101 : 165-169.
  • 6van Steensel MA, Steijlen PM, Bladergroen RS, et al. A missense mutation in the type Ⅱ hair keratin hHb3 is associated with monilethrix. J Meal Genet, 2005,42: e 19.
  • 7Horev L, Djabali K, Green J, et al. De novo mutations in monilethrix. Exp Dermatol, 2003,12: 882-885.
  • 8Danciulescu C, Nick B, Wortmann FJ. Structural stability of wild type and mutated alpha-keratin fragments: molecular dynamics and free energy calculations. Biomacromolecules, 2004,5: 2165-2175.
  • 9Winter H, Labreze C, Chapalain V, et al. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type Ⅱ hair keratin hHb1. J Invest Dermatol, 1998,111 : 169-172.
  • 10冯爱平,刘平,杨涛,汪莹,陈新华,刘木根,王擎,刘静宇.中国汉族人念珠状发患者hHB6基因突变检测[J].中华医学遗传学杂志,2008,25(2):141-144. 被引量:4

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