摘要: A 27-year-old male presented with thickening and hardening of all his 20 nails palmoplantar keratoderma started at 8-month age (Figs. 9.1, 9.2, 9.3, 9.4, 9.5, 9.6, 9.7). His teeth were present birth he had no leukokeratosis oral mucosa, eye involvement.
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Covello, Smith, Sillevis Smitt, Paller, Munro, Jonkman, Uitto, H.I.Mclean, Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology. ,vol. 139, pp. 475- 480 ,(1998) , 10.1046/J.1365-2133.1998.02413.X
D. De Berker, F. Wojnarowska, L. Sviland, G.E. Westgate, R.P.R. Dawber, I.M. Leigh, Keratin expression in the normal nail unit: markers of regional differentiation British Journal of Dermatology. ,vol. 142, pp. 89- 96 ,(2000) , 10.1046/J.1365-2133.2000.03246.X
Harvey Blank, Treatment of pachyonychia congenita with phenytoin. British Journal of Dermatology. ,vol. 106, pp. 123- 123 ,(1982) , 10.1111/J.1365-2133.1982.TB00917.X
J.B. Connors, A.K. Rahil, F.J.D. Smith, W.H.I. Mclean, L.M. Milstone, Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. British Journal of Dermatology. ,vol. 144, pp. 1058- 1062 ,(2001) , 10.1046/J.1365-2133.2001.04199.X
Sancy A. Leachman, Roger L. Kaspar, Philip Fleckman, Scott R. Florell, Frances J.D. Smith, W.H. Irwin McLean, Declan P. Lunny, Leonard M. Milstone, Maurice A.M. van Steensel, Colin S. Munro, Edel A. O'Toole, Julide T. Celebi, Aleksej Kansky, EBirgitte Lane, Clinical and Pathological Features of Pachyonychia Congenita Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 3- 17 ,(2005) , 10.1111/J.1087-0024.2005.10202.X
Leonard M. Milstone, Philip Fleckman, Sancy A. Leachman, Irene M. Leigh, Amy S. Paller, Maurice A.M. van Steensel, Carl Swartling, Treatment of Pachyonychia Congenita Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 18- 20 ,(2005) , 10.1111/J.1087-0024.2005.10203.X
Haihui Liao, Jane M. Sayers, Neil J. Wilson, Alan D. Irvine, Jemima E. Mellerio, Eulalia Baselga, Susan J. Bayliss, Vera Uliana, Michele Fimiani, E. Birgitte Lane, W.H. Irwin McLean, Sancy A. Leachman, Frances J.D. Smith, A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita Journal of Dermatological Science. ,vol. 48, pp. 199- 205 ,(2007) , 10.1016/J.JDERMSCI.2007.07.003
Alessandro Terrinoni, Frances J.D. Smith, Biagio Didona, Flora Canzona, Mauro Paradisi, Marcel Huber, Daniel Hohl, Albert David, Alain Verloes, Irene M. Leigh, Colin S. Munro, Gerry Melino, W.H. Irwin McLean, Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita Journal of Investigative Dermatology. ,vol. 117, pp. 1391- 1396 ,(2001) , 10.1046/J.0022-202X.2001.01565.X
Sheng-Xiang Xiao, Yi-Guo Feng, Xiao-Rong Ren, Sheng-Shun Tan, Li Li, Jun-Min Wang, Yao-Zhou Shi, A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2 Journal of Investigative Dermatology. ,vol. 122, pp. 892- 895 ,(2004) , 10.1111/J.0022-202X.2004.22408.X
C. Swartling, A. Vahlquist, Treatment of pachyonychia congenita with plantar injections of botulinum toxin. British Journal of Dermatology. ,vol. 154, pp. 763- 765 ,(2006) , 10.1111/J.1365-2133.2005.07115.X