Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

The Journal of DermatologyVolume 50, Issue 8 p. e238-e239 LETTER TO THE EDITOR Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case Natsuki Yamaguchi, Natsuki Yamaguchi orcid.org/0000-0001-9044-434X Department of Dermatology, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this authorYukiko Kiniwa, Corresponding Author Yukiko Kiniwa [email protected] orcid.org/0000-0003-3757-7375 Department of Dermatology, Shinshu University School of Medicine, Matsumoto, Japan Correspondence Yukiko Kiniwa, Department of Dermatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Japan. Email: [email protected]Search for more papers by this authorRyota Hayashi, Ryota Hayashi orcid.org/0000-0001-6998-531X Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, JapanSearch for more papers by this authorRiichiro Abe, Riichiro Abe Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, JapanSearch for more papers by this authorShiho Katsuie, Shiho Katsuie Department of Dermatology, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this authorRyuhei Okuyama, Ryuhei Okuyama orcid.org/0000-0003-4360-6865 Department of Dermatology, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this author Natsuki Yamaguchi, Natsuki Yamaguchi orcid.org/0000-0001-9044-434X Department of Dermatology, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this authorYukiko Kiniwa, Corresponding Author Yukiko Kiniwa [email protected] orcid.org/0000-0003-3757-7375 Department of Dermatology, Shinshu University School of Medicine, Matsumoto, Japan Correspondence Yukiko Kiniwa, Department of Dermatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Japan. Email: [email protected]Search for more papers by this authorRyota Hayashi, Ryota Hayashi orcid.org/0000-0001-6998-531X Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, JapanSearch for more papers by this authorRiichiro Abe, Riichiro Abe Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, JapanSearch for more papers by this authorShiho Katsuie, Shiho Katsuie Department of Dermatology, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this authorRyuhei Okuyama, Ryuhei Okuyama orcid.org/0000-0003-4360-6865 Department of Dermatology, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this author First published: 28 February 2023 https://doi.org/10.1111/1346-8138.16761Read 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 1Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006; 314: 982–5. 2Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, et al. Autosomal recessive hypotrichosis with woolly hair caused by a mutation in the keratin 25 gene expressed in hair follicles. J Invest Dermatol. 2016; 136: 1097–105. 3Hayashi R, Shimomura Y. Update of recent findings in genetic hair disorders. J Dermatol. 2022; 49: 55–67. 4Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, et al. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat. 2010; 31: 602–10. 5Chang XD, Gu YJ, Dai S, Chen XR, Zhang CL, Zhao HS, et al. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive wooly hair/hypotrichosis (ARWH/HT). Mutagenesis. 2017; 32: 599–606. Volume50, Issue8August 2023Pages e238-e239 ReferencesRelatedInformation