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X连锁网状色素异常症1例 被引量:5

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摘要 患儿男。3岁。因全身色素异常3年于2008年11月28日就诊于我科。患儿出生时皮肤较黑,无自觉症状,未予特殊诊治。出生后10个月时,面部、腕部、臀部及股内侧出现圆形色素减退斑,并逐渐增多,同时全身皮肤颜色加深,伴出汗减少,夏季体温可达38℃,物理降温可缓解。患儿每年发生10余次上呼吸道感染,每年冬季发生2次肺炎,3~5d排便1次,较干燥。患儿系足月顺产,父母非近亲结婚,家族成员无类似病史。
作者 林志淼 杨勇
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2011年第10期634-635,共2页 Journal of Clinical Dermatology
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参考文献4

  • 1Jaeckle Santos LJ, Xing C, Barnes RB, et al. Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes[J]. Hum Genet, 2008, 123(5): 469-476.
  • 2Fernandez-Guarino M, Torrelo A, Fernandez-Lorente M, et al. X-linked reticulate pigmentary disorder: report of a new family [J]. Eur J Dermatol, 2008, 18(1): 102-103.
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同被引文献22

  • 1李莉,宋国维,杜军保,刘吉荣,徐放生,刘晓雁,张霆.色素失禁症NEMOΔ4~10基因片段缺失的初步研究[J].中华儿科杂志,2005,43(2):89-92. 被引量:11
  • 2Jaeckle Santos L.I, Xing C, Barnes RB, et al. Refined mapping of X - linked reticulate pigmentary disorder and sequencing of candidate genes[J]. Hmn Genet, 2008, 123: 469-476.
  • 3Fernandez-Guarino M, Torrelo A, Fernandez-Lorente M, et al. X- linked reticulate pigmentary disorder: report of a new family [J]. Eur J Dermatol, 2008, 18: 102-103.
  • 4Fraile G, Norman F, Reguero ME, et al. Cryptogenic muhifocal ulcerous stenosing enteritis (CMUSE) in a man with a diagnosis of X-linked reticulate pigmentary disorder (PDR) [J]. Scand J Gastroenterol, 2008, 43:506-510.
  • 5Kim BS, Seo SH, Jung HD, et al. X-Linked reticulate pigmentary disorder in a female patient[J]. Int J Dermatol, 2010, 49:421-425.
  • 6Partington MW, Marriott PJ, Prenticd RSA, et al. Familial cutaneous amyloidosis with systemic manifestations in males [J]. Am J Med Genet 1981, 10: 65-75.
  • 7Gedeon AK, Mulley JC, Kozman H, et al. Localization of the gene for X-kinked reticulate pigmentary disorder with systemic manifesta- tions (RPD), previously known as X-linked cutaneous amyloidosis [J]. Am J Med Genet 1994, 52:75-78.
  • 8Partington MW, Prentice RS. X-linked cutaneous amyloidosis: further clinical and pathological observations [J]. Am J Med Genet, 1989, 32:115-119.
  • 9Lorenz B, Gampe E. Analyse yon 180 Patienten mit sensorischem Defektnystagmus (SDN) und kongenitalem idiopathischem Nystagmus (CIN)[J]. Klin Monatsbl Augenheilkd, 2001,218:3-12.
  • 10Cortese K, Giordano F, Surace EM, et al. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size [J]. Invest Ophthalmol Vis Sci, 2005, 46:4358-4364.

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