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遗传性对称性色素异常症 被引量:10

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摘要 遗传性对称性色素异常症 ,系一种少见的常染色体显性遗传性皮肤病 ,以面部和肢端背面色素异常为主要表现 ,主要发生于日本 ,其分子病因学尚未阐明 ,近年对该病的致病基因的研究相当活跃。
机构地区 中国医学科学院
出处 《国外医学(皮肤性病学分册)》 2004年第3期161-163,共3页 Foreign Medical Sciences(Section of Dermatology and Venereology)
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  • 1Oyama M, Shimizu H, Ohata Y, et al. Dyschromatosis symmetrica hereditaria ( reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol, 1999, 140:491-496.
  • 2Ohtoshi E, Matsunura Y, Nishigori C,et al. Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum. Br J Dermatol,2001, 144: 162 - 168.
  • 3Rapic-Otrin V, Navazza V, Nardo T, et al. True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.Hum Mol Genet, 2003, 12:1507 -1522.
  • 4Tojyo K, Hattori T, Sekijima Y,et al. A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis. Rinsho Shinkeigaku,2001, 41: 299 -305.
  • 5Schnur RE, Heymann WR. Reticulate hyperpigmentation. Semin Cutan Med Surg, 1997, 16:72 -80.
  • 6Alfadley A, Al Ajlan A, Hainau B, et al. Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. J Am Acad Dermatol, 2000, 43: 113 - 117.
  • 7Xing QH, Wang MT, Chen XD, et al. A gene locus responsible for dyschromatosis symmetrica hereditaria ( DSH ) maps to chromosome
  • 8Patrizi A, Manneschi V, Pini A, et al. Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report.Acta Derm Venereol, 1994, 74:135 -137.
  • 9Danese P, Zanca A, Bertazzoni MG. Familial reticulate acropigmentation of Dohi. J Am Acad Dermatol, 1997, 37:884 -886.
  • 10Hata S, Yokomi I. Density of dopa-positive melanocytes in dyschromatosis symmetrica hereditaria. Dermatologica, 1985, 171: 27 -29.

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