A Large Mutational Study in Pachyonychia Congenita Neil J. Wilson, Sancy A. Leachman, C. David Hansen, Alexandra C. McMullan, Leonard M. Milstone, Mary E. Schwartz, W.H. Irwin McLean, Peter R. Hull, Frances J.D. Smith  Journal of Investigative Dermatology  Volume 131, Issue 5, Pages 1018-1024 (May 2011) DOI: 10.1038/jid.2011.20 Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features of pachyonychia congenita (PC). Plantar keratoderma and nail dystrophy in PC patients with known keratin mutations. Mutations are annotated. Note the variation in severity and clinical appearance of these features. Journal of Investigative Dermatology 2011 131, 1018-1024DOI: (10.1038/jid.2011.20) Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Mutational spectrum in pachyonychia congenita (PC). Pie chart showing percentage of families in this study with mutations in the four keratin genes, namely, KRT6A, KRT6B, KRT16, and KRT17. Journal of Investigative Dermatology 2011 131, 1018-1024DOI: (10.1038/jid.2011.20) Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Kyte–Doolittle hydrophilicity analysis of normal and mutant K6a V2 domain. (a) The normal K6a V2 domain consists of alternating hydrophobic and hydrophilic sequences, followed by a short hydrophilic C terminus, whereas (b) the mutant V2 domain is almost completely hydrophilic. Journal of Investigative Dermatology 2011 131, 1018-1024DOI: (10.1038/jid.2011.20) Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions