Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation Rinko Osawa, MD, Masashi.

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Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation Rinko Osawa, MD, Masashi Akiyama, MD, PhD, Kentaro Izumi, MD, Hideyuki Ujiie, MD, Kaori Sakai, MS, Ikue Nemoto-Hasebe, MD, Teruki Yanagi, MD, Hiroko Koizumi, MD, PhD, Hiroshi Shimizu, MD, PhD Journal of the American Academy of Dermatology Volume 64, Issue 5, Pages 991-993 (May 2011) DOI: 10.1016/j.jaad.2009.04.019 Copyright © 2009 American Academy of Dermatology, Inc. Terms and Conditions

Fig 1 Clinical, histopathologic, and ultrastructural features of the patient. Severe diffuse hyperkeratosis and scale are seen on the palms (A) and soles (B). Warty brown hyperkeratosis and scale are present on the margins and the dorsal surface of the foot (C). Generalized erythroderma and scaling is seen on the trunk (D). The histopathologic examination revealed acanthosis and hyperkeratosis, coarse keratohyaline granules, and severe granular degeneration in the entire spinous and granular layers of the epidermis (E). Ultrastructurally, clumping of the keratin filaments (arrows) is seen within an upper epidermal keratinocyte (F). Journal of the American Academy of Dermatology 2011 64, 991-993DOI: (10.1016/j.jaad.2009.04.019) Copyright © 2009 American Academy of Dermatology, Inc. Terms and Conditions

Fig 2 Summary of mutations in the helix initiation motif (HIM) and helix termination motif (HTM) of K1 from the Human Intermediate Filament Database (www.interfil.org/). A, Molecular structure of K1. B, Heptad repeats in HIM and HTM of K1 and mutation sites. The majority of cases (22 of 26) had mutations in the heptad repeat position a, d, e, and g. The present mutation is located at the a position leucine residue at codon no.486 (red characters) in the C-terminal–most heptad repeat. C, Summary of the KRT1 mutations in HIM and HTM, alterations of hydropathy index, and levels of palmoplantar hyperkeratosis. Eight cases, including the present one, were reported as showing severe palmoplantar hyperkeratosis, and seven of those nine patients harbored mutations in the important a, d, e, and g position of heptad repeats. Mutations in this 486-leucine residue may seriously perturb the stability of keratin intermediate filaments. The substitution of arginine for leucine alters the character of the amino acid from that of a hydrophobic, apolar amino acid (hydropathy index of leucine, +3.8) to that of the most hydrophilic, basic amino acid (hydropathy index of arginine, –4.5). D, Heptad structure of the rod domain: schematic of a transverse cut through the last heptad (abcdefg) of the HTM of K1 and K10, showing hydrophobic interactions between positions a and d (dashed lines) and ionic hydrogen interactions between positions e and g (dotted lines). Position a is occupied by apolar, hydrophobic amino acids. The a residues are thought to interact with amino acids located in the d position of the partner molecule of the heterodimer through hydrophobic interactions which stabilize the two-chain coiled-coil molecules. When the two strands coil around each other, positions a and d are internalized, stabilizing the structure, while positions b, c, e, f, and g are exposed on the surface of the protein. Residues at positions e and g stabilize dimer formation through ionic and hydrogen bonds. Journal of the American Academy of Dermatology 2011 64, 991-993DOI: (10.1016/j.jaad.2009.04.019) Copyright © 2009 American Academy of Dermatology, Inc. Terms and Conditions