Comparing the severity of epidermolysis bullosa simplex harboring KRT5 variants with the AlphaMissense score

The Journal of DermatologyEarly View LETTER TO THE EDITOR Comparing the severity of epidermolysis bullosa simplex harboring KRT5 variants with the AlphaMissense score Michiya Omi, Michiya Omi orcid.org/0009-0002-9904-9623 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorTakuya Takeichi, Corresponding Author Takuya Takeichi [email protected] orcid.org/0000-0001-5958-2875 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Nagoya University Institute for Advanced Research, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected] and [email protected]Search for more papers by this authorTakenori Yoshikawa, Takenori Yoshikawa orcid.org/0000-0002-4155-1760 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYuki Inoue, Yuki Inoue Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Nagoya, JapanSearch for more papers by this authorRyo Fukaura, Ryo Fukaura orcid.org/0000-0002-3946-7893 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorIkumi Hattori, Ikumi Hattori Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYuka Nakazawa, Yuka Nakazawa Nagoya University Institute for Advanced Research, Nagoya, Japan Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorTatsuhiro Noda, Tatsuhiro Noda Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYoshinao Muro, Yoshinao Muro orcid.org/0000-0003-2329-8375 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorMasashi Akiyama, Corresponding Author Masashi Akiyama [email protected] orcid.org/0000-0001-5863-9315 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected] and [email protected]Search for more papers by this author Michiya Omi, Michiya Omi orcid.org/0009-0002-9904-9623 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorTakuya Takeichi, Corresponding Author Takuya Takeichi [email protected] orcid.org/0000-0001-5958-2875 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Nagoya University Institute for Advanced Research, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected] and [email protected]Search for more papers by this authorTakenori Yoshikawa, Takenori Yoshikawa orcid.org/0000-0002-4155-1760 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYuki Inoue, Yuki Inoue Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Nagoya, JapanSearch for more papers by this authorRyo Fukaura, Ryo Fukaura orcid.org/0000-0002-3946-7893 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorIkumi Hattori, Ikumi Hattori Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYuka Nakazawa, Yuka Nakazawa Nagoya University Institute for Advanced Research, Nagoya, Japan Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorTatsuhiro Noda, Tatsuhiro Noda Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYoshinao Muro, Yoshinao Muro orcid.org/0000-0003-2329-8375 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorMasashi Akiyama, Corresponding Author Masashi Akiyama [email protected] orcid.org/0000-0001-5863-9315 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected] and [email protected]Search for more papers by this author First published: 10 October 2024 https://doi.org/10.1111/1346-8138.17488Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Bolling MC, Lemmink HH, Jansen GHL, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. 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A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: disease severity assessment using AlphaMissense technology. J Dermatol. 2024; 51: 1134–1136. 10.1111/1346-8138.17367 CASPubMedGoogle Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation