Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14) Carrie S. Shemanko

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Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14) Carrie S. Shemanko Journal of Investigative Dermatology Volume 111, Issue 5, Pages 893-895 (November 1998) DOI: 10.1046/j.1523-1747.1998.00388.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Hyperkeratosis of the palm. The patient demonstrates marked palmar hyperkeratosis despite previous long-term oral corticosteroid treatment and surgical excision of hyperkeratotic skin. Photograph taken at age 38 y. Journal of Investigative Dermatology 1998 111, 893-895DOI: (10.1046/j.1523-1747.1998.00388.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Severe keratin intermediate filament disruption in epidermis. Electron microscopy of clinically uninvolved skin from the upper arm reveals keratin intermediate filament disruption. Keratin intermediate filaments (tonofilaments) show clumping (arrows) beneath the nucleus (N) of a basal epidermal cell with evidence of early cytolysis (*), confirming a diagnosis of EBS-DM. Scale bar: 1 μm. Journal of Investigative Dermatology 1998 111, 893-895DOI: (10.1046/j.1523-1747.1998.00388.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 An automated sequence chromatograph. Sequence chromatographs generated from the cycle sequencing of the KRT14 gene with a sense primer show (A) the heterozygous change from a T to a C in the second position of codon 119 (K14M119T) versus (B) the control sequence. Both individuals show a homozygous polymorphic variation of a G to a A in the third position of codon 120 that does not alter the amino acid glutamine. Nucleotides identifying the signal peaks are indicated directly above the peaks and the corresponding amino acid above the first letter of the codon. The altered nucleotide and amino acid are above the respective normal sequence. The standard one letter abbreviation for the amino acid is given. Journal of Investigative Dermatology 1998 111, 893-895DOI: (10.1046/j.1523-1747.1998.00388.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Restriction digest to demonstrate association of the mutation with the EBS-phenotype. The 264 bp polymerase chain reaction-generated fragment (lane 12) was excised by Nla III to produce two fragments sized 181 bp and 83 bp if the site at this codon was normal (lanes 1–10). The mutation knocked out the recognition site resulting in an uncut fragment of 264 bp in one allele of the patient DNA (lane 11). Products were analyzed on a 4% NuSieve agarose TBE gel. Journal of Investigative Dermatology 1998 111, 893-895DOI: (10.1046/j.1523-1747.1998.00388.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions