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掌跖角化-牙周破坏综合征1例 被引量:3

Papillon-Lefèvre syndrome:A case report
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摘要 掌跖角化-牙周破坏综合征(PLS)是一种罕见的常染色体隐性遗传性疾病,其特点是手掌和脚掌部位的皮肤过度角化以及乳、恒牙过早脱落。本文就1例具有典型PLS临床特点的病例进行报道,并对相关文献进行回顾。 Papillon-Lefèvre syndrome(PLS) is an extremely rare inherited disease as an autosomal recessive trait. The disorder is characterized by diffuse palmoplantar keratoderma and premature loss of both deciduous and permanent teeth.This paper described a case of PLS with classic clinical features and briefly reviewed the relevant literature.
出处 《华西口腔医学杂志》 CAS CSCD 北大核心 2007年第6期616-618,共3页 West China Journal of Stomatology
关键词 掌跖角化-牙周破坏综合征 常染色体隐性遗传 组织蛋白酶C 多形核白细胞 Papillon-Lefèvre syndrome autosomal recessive cathepsin C polymorphonuclear leukocyte
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参考文献17

  • 1Papillon MM, Lelevre P, Deux cas de keratodermie palmaire et plantaire symmetrique famiale (maladie de Meleda) chez le frere et la soeur: Coexistance dans les deux cas d'alterations dentaires graves[J]. Bull Soc Derma Symp, 1924, 31 (2):82-87.
  • 2Gorlin R J, Sedano H, Anderson VE. The syndrome of palmarplantar hyperkeratosis and premature periodontal destruction of the teeth[J]. J Pediatr, 1964, 65(12):895-908.
  • 3Cury VF, Costa JE, Gomez RS, et al. A novel mutation of the cathepsin C gene in Papillon-Lefevre syndrome[J]. J Periodontol, 2002, 73 (3) : 307-312.
  • 4Gorlin RJ, Pindborg JJ, Cohen MM. Syndromes of the head and neck[M]. 2nd ed. New York: McGraw-Hill Publishing House, 1976: 373-376.
  • 5Giansanti JS, Hrabak RP, Waldron CA. Palmar-plantar hyperkeratosis and concomitant periodontal destruction(Papillon-Lefevre syndrome) [J]. Oral Surg Oral Med Oral Pathol, 1973, 36 (1): 40-48.
  • 6Almuneef M, Al Khenaizan S, Al Ajaji S, et al. Pyogenic liver abscess and Papillon-Lefevre syndrome: Not a rare association [J]. Pediatrics, 2003, 111 (1):e85-88.
  • 7Reyes VO, King-Ismael D, Abad-Venida L. Papillon-Lefevre syndrome[J]. Int J Dermatol, 1998, 37 (4) : 268-270.
  • 8Hart TC, Hart PS, Bowden DW, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome[J]. J Med Genet, 1999, 36(12) : 881-887.
  • 9Toomes C, James J, Wood A J, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis[J]. Nat Genet, 1999, 23(4):421-424.
  • 10Cagli NA, Hakki SS, Dursun R, et al. Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefevre syndrome [J]. J Periodontol, 2005, 76(12):2329-2333.

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