Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients  Marieke C. Bolling, Jan D.H. Jongbloed, Ludolf G. Boven, Gilles F.H. Diercks, Frances J.D. Smith, W.H. Irwin McLean, Marcel F. Jonkman  Journal of Investigative Dermatology  Volume 134, Issue 1, Pages 273-276 (January 2014) DOI: 10.1038/jid.2013.277 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Epidermolysis bullosa simplex due to dominant PLEC mutations. (a) Patients 5 (left) and 6 (right) had hemorrhagic and serous blisters (arrows) on the foot and thickening discolored toenails. (b) Plectin staining with antibody 10F6 of control (left), proband 1 with Ogna mutation (middle), and proband 5 with C-terminal mutation (right) reveals that the Ogna mutation reduces staining, especially in the basal cell layer (arrows), more than the C-terminal mutation does. Bar=50 μm. (c) Schematic representation of the plectin protein with the mutations depicted below the protein. GenBank accession number NM_000436.3. Journal of Investigative Dermatology 2014 134, 273-276DOI: (10.1038/jid.2013.277) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions