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兄弟同患家族性良性天疱疮3例 被引量:2

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摘要 先证者男.43岁,因腋窝、腹股沟、脐周和腰部出现红斑、水痘、糜烂20余年.于2006年4月10日来我院就诊.患者22岁时双腋窝、腹股沟无明显诱因出现红斑、水疱,水疱破溃后形成浅表糜烂、结痂,随后脐周、腰部血出现类似皮损,并在原有皮损的基础上形成疣状增生,表面粗糙,呈污灰色,曾在多家医院以“湿疹”等治疗,虽可好转但不能治愈,反复发作,以夏季为重.
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2007年第4期251-252,共2页 Journal of Clinical Dermatology
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参考文献4

  • 1Burge SM.Hailey-Hailey disease:the clinical features,response to treatment and prognosis[J].Br J Dennatol,1992,126(3):275-282.
  • 2Hu Z,Bonifas JM,Beech J,et al.Mutations in ATP2C1,encoding a calcium pump,cause Hailey-Hailey disease[J].Nat Genet,2000,24(1):61-65.
  • 3Sudbrak R,Brown J,Dobson-Stone C,et al.Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump[J].Hum Mol Genet,2000,9(7):1131-1134.
  • 4颜潇潇,张福仁.家族性良性天疱疮分子生物学研究新进展[J].国外医学(皮肤性病学分册),2005,31(6):370-372. 被引量:2

二级参考文献19

  • 1Metze D, Hamm H, Schorat A, et al. Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. J Cutan Pathol, 1996, 23:211-222.
  • 2Richard G, Korge BP, Wright AR, et al. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. J Invest Dermatol,1995, 105: 357-360.
  • 3Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C 1 encoding a novel Ca (2+) pump.Hum Mol Genet, 2000, 9: 1131-1140.
  • 4Hu Z, Bonifas JM, Beech J,et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet, 2000, 24: 61-65.
  • 5Wei Y, Chen J, Rosas G, et al. Phenotypic screening of mutations in Pmr1, the yeast secretory pathway Ca2+/Mn2+-ATPase, reveals residues critical for ion selectivity and transport. J Biol Chem, 2000, 275: 23927-23932.
  • 6Ton VK, Mandal D, Vahadji C, et al. Functional expression in yeast of the human secretory pathway Ca(2+ ), Mn(2+ )-ATPase defective in Hailey-Hailey disease. J Biol Chem, 2002, 277: 6422-6427.
  • 7Behne MJ, Tu CL, Aronchik I,et al. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J Invest Dermatol, 2003, 121: 688-694.
  • 8Wuytack F, Raeymaekers L, Missiaen L. PMR1/SPCA Ca2+ pumps and the role of the Golgi apparatus as a Ca2+ store. Pflugers Arch, 2003, 446: 148-153.
  • 9Callewaert G, Parys JB, De Smedt H, et al. Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathwgy Ca(2+)-ATPase SPCA1. Cell Calcium, 2003, 34: 157-162.
  • 10Missiaen L, Raeymaekers L, Dode L, et al. SPCA1 pumps and Hai ley-Hailey disease. Biochem Biophys Res Commun, 2004, 322: 1204-1213.

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