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以咖啡牛奶斑为表现的Ⅰ型神经纤维瘤病2例

Two cases of neurofibromatosis type 1 presenting as multiple café-au-lait spots
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摘要 例1男,6月龄,自出生时躯干、四肢多发咖啡牛奶斑。皮肤科检查:背部、前胸、腋窝大片咖啡牛奶斑(直径>15mm),四肢散在≥6片咖啡牛奶斑(直径>5mm)(图1)。余系统检查无异常。患者父母均正常,非近亲结婚,患者无兄弟姊妹,无家族史。
作者 李洪达 孙乐乐 刘红 张福仁 Li Hongda;Sun Lele;Liu Hong;Zhang Furen(Shandong University,Jinan 250061,China;Shandong Provincial Hospital of Dermatology,Jinan 250012,China)
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2024年第4期363-364,共2页 Chinese Journal of Dermatology
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  • 1Martin Y, Dopazo A, Hern6ndez-Chico C. Progress and challenges in developing a molecular diagnostic test for neurofibromatosis type 1. Expert Rev Mol Diagn, 2011, 11(7): 671-673.
  • 2Maertens O, De Schepper S, Vandesompele J, et al. Molecular dissection of isolated disease features in mosaic neumfibro- matosis type 1. Am J Hum Genet, 2007, 81(2): 243-251.
  • 3Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat, 2000, 15(6): 541-555.
  • 4No authors listed. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neural, 1988, 45(5): 575-578.
  • 5Souza JF, Toledo LL, Ferreira MC,et al. Neurofibromatosis type 1: more frequent and severe then usually thought. Rev Assoc Med Bras, 2009, 55(4): 394-399.
  • 6Stevens CA, Chiang PW, Messiaen LM. Caf-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. Am J Med Genet A, 2012, 158A(5): 1195-1199.
  • 7Quint6ns B, Pardo J, Campos B, et al. Neurofibromatosis without neurofibromas: confirmation of a genotype-phenotype correlation and implications for genetic testing. Case Rep Neurol, 2011, 3: 86-90.
  • 8Muram-Zborovski TM, Vaughn CP, Viskochil DH, et al. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. Am J Med Genet A, 2010, 152A(8): 1973-1978.
  • 9Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet, 2007, 80( 1 ): 140-151.
  • 10陈军,刘健航.咖啡牛奶色斑[J].国际皮肤性病学杂志,2007,33(6):357-359. 被引量:6

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