毛发低硫营养不良并发SIBI(D)S综合征1例

徐芳香,廖祥福,刘东海,何庆南

中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (09) : 717-718.

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (09) : 717-718.
病例报告

毛发低硫营养不良并发SIBI(D)S综合征1例

  • 徐芳香,廖祥福,刘东海,何庆南
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Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report

  • XU Fang-Xiang, LIAO Xiang-Fu, LIU Dong-Hai, HE Qing-Nan
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徐芳香,廖祥福,刘东海,何庆南. 毛发低硫营养不良并发SIBI(D)S综合征1例[J]. 中国当代儿科杂志. 2012, 14(09): 717-718
XU Fang-Xiang, LIAO Xiang-Fu, LIU Dong-Hai, HE Qing-Nan. Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(09): 717-718
中图分类号: R596.1   

参考文献

[1]Jiménez-Puya R, Moreno-Giménez JC, Camacho-Martínez F, Ferrando-Barbera J, Grimaltc R. Trichothiodystrophy: PIBIDS syndrome[J]. Actas Dermosifiliogr, 2007, 98(3): 183-187.

[2]Jaspers NG. Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies[J]. Cytokines Mol Ther, 1996, 2(2): 115-119.

[3]Yamaguchi T, Osumi T. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase[J]. Biochim Biophys Acta, 2009, 1791(6): 519-523.

[4]McCuaig C, Marcoux D, Rasmussen JE, Werner MM, Gentner NE. Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis[J]. J Am Acad Dermatol, 1993: 28(5Pt2): 820-826.

[5]苏秀霞,方元勋,程士樟. 小儿鱼鳞病及其综合症[J]. 安徽医学,2002,23(1):60-61.

[6]李铁耕,秦雨春. 先天性鱼鳞病合并眼、耳、肾、骨多发异常一例[J]. 中国新生儿科杂志,2006,21(3):174.

[7]姚志荣,姜嫒芳,梁键莹.国内首报毛囊鱼鳞病、秃发、畏光综合征一例[J]. 中华皮肤科杂志,2008,41(10):644-646.

[8]Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis[J]. AJNR Am J Neuroradiol, 2010, 31(1): 129-130.

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