Journal of Dermatological Science
Volume 45, Issue 1 , Pages 63-65 , January 2007

Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads

  • Y.-S. Sheen

      Affiliations

    • Department of Dermatology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan, ROC
    • ,
  • C.-Y. Chu

      Affiliations

    • Department of Dermatology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan, ROC
    • ,
  • P.-J. Lin

      Affiliations

    • Department of Dermatology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan, ROC
    • ,
  • S.-H. Liaw

      Affiliations

    • Department of Life Science, National Yang-Ming University, 155, Sec. 2, Li-Nong Street, Taipei 112, Taiwan, ROC
    • ,
  • H.-C. Chiu

      Affiliations

    • Department of Dermatology, College of Medicine, National Taiwan University, 7 Chung-Shan South Road, Taipei 100, Taiwan, ROC
    • Corresponding Author InformationCorresponding authors. Tel.: +886 2 23562141; fax: +886 2 23934177.
    • ,
  • S.-H. Jee

      Affiliations

    • Department of Dermatology, College of Medicine, National Taiwan University, 7 Chung-Shan South Road, Taipei 100, Taiwan, ROC
    • Corresponding Author InformationCorresponding authors. Tel.: +886 2 23562141; fax: +886 2 23934177.

Received 13 July 2006

References 

  1. Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, et al. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. J Invest Dermatol. 1995;104:425–429
  2. Paller AS, Hebert AA. Knuckle pads in children. Am J Dis Child. 1986;140:915–917
  3. Lu Y, Guo C, Liu Q, et al. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am J Med Genet A. 2003;120:345–349
  4. Hamada T, Ishii N, Karashima T, Kawano Y, Yasumoto S, Hashimoto T. The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses. J Dermatol. 2005;32:500–502
  5. Kuster W, Reis A, Hennies HC. Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res. 2002;294:268–272
  6. Kuster W, Zehender D, Mensing H, Hennies HC, Reis A. Vorner keratosis palmoplantaris diffusa. Clinical, formal genetic and molecular biology studies of 22 families. Hautarzt. 1995;46:705–710
  7. Zhang BR, Yin XZ, Xia K, Ding MP, Hu ZM, Zheng M, et al. Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21:570–573
  8. Nogita T, Nakagawa H, Ishibashi Y. Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. Br J Dermatol. 1991;125:496
  9. Swensson O, Langbein L, McMillan JR, Stevens HP, Leigh IM, McLean WH, et al. Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress. Br J Dermatol. 1998;139:767–775

PII: S0923-1811(06)00259-3

doi: 10.1016/j.jdermsci.2006.09.005

Journal of Dermatological Science
Volume 45, Issue 1 , Pages 63-65 , January 2007

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