Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and systemic complications, including bleeding tendencies. While 11 genes associated with HPS have been identified, cases of HPS5 remain exceedingly rare, particularly in Japan. Here, we report two Japanese patients with novel pathological HPS5 variants, expanding the genetic spectrum of this disorder. Both patients exhibited typical features of mild skin and hair hypopigmentation, and significant ocular involvement. Genetic analysis revealed a heterozygous nonsense variant, NG_008877.1 (NM_181507.2): c.2275G>T, in both patients, inherited from their fathers. Additionally, maternal variants NG_008877.1 (NM_181507.2): c.2952-13G>A and NG_008877.1 (NM_181507.2): c.1128A>G were identified in patient 1 and patient 2, respectively. These variants, initially presumed non-pathogenic, were found to induce alternative splicing, leading to truncated protein production. Our findings highlight the functional importance of synonymous variants and their potential role in HPS. This report represents the first documented case of a synonymous pathogenic variant associated with HPS and underscores the need for comprehensive genetic and transcriptomic analyses in rare genetic disorders.

The Journal of DermatologyEarly View LETTER TO THE EDITOR Post-COVID-19 vaccination diffuse cutaneous sarcoidosis Ami Hemmi, Corresponding Author Ami Hemmi [email protected] orcid.org/0000-0002-4092-6129 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan Correspondence Ami Hemmi, Department of Dermatology, Faculty of Medicine, Yamagata University, 2-2-2, Iida-Nishi, Yamagata 990-9585, Japan. Email: [email protected]Search for more papers by this authorKen Okamura, Ken Okamura orcid.org/0000-0001-7366-3233 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorMariko Nikaido, Mariko Nikaido Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorToru Saito, Toru Saito orcid.org/0000-0003-3769-8361 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorYosuke Arai, Yosuke Arai orcid.org/0009-0002-5143-4661 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorTamio Suzuki, Tamio Suzuki Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this author Ami Hemmi, Corresponding Author Ami Hemmi [email protected] orcid.org/0000-0002-4092-6129 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan Correspondence Ami Hemmi, Department of Dermatology, Faculty of Medicine, Yamagata University, 2-2-2, Iida-Nishi, Yamagata 990-9585, Japan. Email: [email protected]Search for more papers by this authorKen Okamura, Ken Okamura orcid.org/0000-0001-7366-3233 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorMariko Nikaido, Mariko Nikaido Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorToru Saito, Toru Saito orcid.org/0000-0003-3769-8361 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorYosuke Arai, Yosuke Arai orcid.org/0009-0002-5143-4661 Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this authorTamio Suzuki, Tamio Suzuki Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, JapanSearch for more papers by this author First published: 14 March 2024 https://doi.org/10.1111/1346-8138.17194Read 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 1Potestio L, Megna M, Villani A, Cacciapuoti S, Scalvenzi M, Martora F. Herpes zoster and COVID-19 vaccination: a narrative review. Clin Cosmet Investig Dermatol. 2023; 16: 3323–3331. 10.2147/CCID.S441898 CASPubMedWeb of Science®Google Scholar 2Yamauchi K, Oiso N, Iwanaga T, Tatsumi Y, Matsumura I, Tohda Y, et al. Post-herpes zoster sarcoidosis as a recurrence. J Dermatol. 2018; 45: e150–1. 10.1111/1346-8138.14211 PubMedWeb of Science®Google Scholar 3Sahin U, Muik A, Vogler I, Derhovanessian E, Kranz LM, Vormehr M, et al. BNT162b2 vaccine induces neutralizing antibodies and poly-specific T cells in humans. Nature. 2021; 595: 572–577. 10.1038/s41586-021-03653-6 CASPubMedWeb of Science®Google Scholar 4Numakura T, Murakami K, Tamada T, Yamaguchi C, Inoue C, Ohkouchi S, et al. A novel development of sarcoidosis following COVID-19 vaccination and a literature review. Intern Med. 2022; 61: 3101–3106. 10.2169/internalmedicine.0104-22 PubMedWeb of Science®Google Scholar 5Tchernev G, Kordeva S, Kirilova H, Broshtilova V. The first reported case of erythrodermic sarcoidosis with systemic involvement during COVID-19 vaccination. Dermatol Reports. 2023; 15: 9636. PubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation

Tietz albinism-deafness syndrome (TADS) is a rare and severe manifestation of Waardenburg syndrome that is primarily linked to mutations in MITF. In this report, we present a case of TADS resulting from a novel c.637G>C mutation in MITF (p.Glu213Gln; GenBank Accession number: NM_000248). A 3-year-old girl presented with congenital generalized hypopigmentation of the hair, skin, and irides along with complete sensorineural hearing loss. Histopathological and electron microscopy investigations indicated that this variant did not alter the number of melanocytes in the skin but significantly impaired melanosome maturation within melanocytes. Comprehensive melanin analysis revealed marked reductions in both eumelanin (EM) and pheomelanin (PM) rather than changes in the EM-to-PM ratio observed in oculocutaneous albinism. We conducted an electrophoretic mobility shift assay to investigate the binding capability of the identified variant to DNA sequences containing the E-box motif along with other known variants (p.Arg217del and p.Glu213Asp). Remarkably, all three variants exhibited dominant-negative effects, thus providing novel insights into the pathogenesis of TADS. This study sheds light on the genetic mechanisms underlying TADS and offers a deeper understanding of this rare condition and its associated mutations in MITF.

The Journal of DermatologyEarly View LETTER TO THE EDITOR Successful treatment of recurrent subcutaneous abscesses using granulocyte and monocyte adsorptive apheresis Ken Okamura, Corresponding Author Ken Okamura [email protected] orcid.org/0000-0001-7366-3233 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan Correspondence Ken Okamura, Department of Dermatology, Faculty of Medicine, Yamagata University, 2-2-2, Iida-Nishi, Yamagata 990-9585, Japan. Email: [email protected]Search for more papers by this authorMariko Nikaido, Mariko Nikaido Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorToru Saito, Toru Saito orcid.org/0000-0003-3769-8361 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorYosuke Arai, Yosuke Arai orcid.org/0009-0002-5143-4661 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorChiharu Yoshioka, Chiharu Yoshioka Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorMakoto Yagi, Makoto Yagi Division of Endoscopy, Yamagata University Hospital, Yamagata, JapanSearch for more papers by this authorHitomi Komoriya, Hitomi Komoriya Department of Psychiatry, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorNana Takahashi, Nana Takahashi Department of Psychiatry, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorYutaka Hozumi, Yutaka Hozumi Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorTamio Suzuki, Tamio Suzuki Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this author Ken Okamura, Corresponding Author Ken Okamura [email protected] orcid.org/0000-0001-7366-3233 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan Correspondence Ken Okamura, Department of Dermatology, Faculty of Medicine, Yamagata University, 2-2-2, Iida-Nishi, Yamagata 990-9585, Japan. Email: [email protected]Search for more papers by this authorMariko Nikaido, Mariko Nikaido Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorToru Saito, Toru Saito orcid.org/0000-0003-3769-8361 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorYosuke Arai, Yosuke Arai orcid.org/0009-0002-5143-4661 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorChiharu Yoshioka, Chiharu Yoshioka Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorMakoto Yagi, Makoto Yagi Division of Endoscopy, Yamagata University Hospital, Yamagata, JapanSearch for more papers by this authorHitomi Komoriya, Hitomi Komoriya Department of Psychiatry, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorNana Takahashi, Nana Takahashi Department of Psychiatry, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorYutaka Hozumi, Yutaka Hozumi Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorTamio Suzuki, Tamio Suzuki Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this author First published: 20 March 2024 https://doi.org/10.1111/1346-8138.17198Read 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 1Szalat R, Monsel G, Le Goff W, Battistella M, Bengouffa D, Schlageter M-H, et al. The spectrum of neutrophilic dermatoses associated with monoclonal gammopathy: association with IgA isotype and inflammatory profile. J Am Acad Dermatol. 2015; 73: 809–820. 10.1016/j.jaad.2015.07.031 CASPubMedWeb of Science®Google Scholar 2André MFJ, Piette JC, Kémény JL, Ninet J, Jego P, Delèvaux I, et al. Aseptic abscesses: a study of 30 patients with or without inflammatory bowel disease and review of the literature. Medicine (Baltimore). 2007; 86: 145–161. 10.1097/md.0b013e18064f9f3 PubMedWeb of Science®Google Scholar 3Kennis B, Ali A, Lasoff D, Sweeney DA, Wardi G. The diagnostic utility of procalcitonin is limited in the setting of methamphetamine toxicity. Am J Emerg Med. 2022; 54: 36–40. 10.1016/j.ajem.2022.01.049 PubMedWeb of Science®Google Scholar 4Marzano AV, Ortega-Loayza AG, Ceccherini I, Cugno M. LPIN2 gene mutation in a patient with overlapping neutrophilic disease (pyoderma gangrenosum and aseptic abscess syndrome). JAAD Case Rep. 2018; 4: 120–122. 10.1016/j.jdcr.2017.08.020 PubMedGoogle Scholar 5Kato S, Hosomi E, Amano F, Kobayashi T, Kani K, Yamamoto R, et al. The efficacy of intensive granulocyte and monocyte adsorption apheresis in a patient with Crohn's disease complicated by extensive subcutaneous aseptic neutrophilic abscesses. J Crohns Colitis. 2012; 6: 787–791. 10.1016/j.crohns.2012.02.005 PubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation

The Journal of DermatologyEarly View LETTER TO THE EDITOR A case of acute localized exanthematous pustulosis following COVID-19 infection Yosuke Arai, Corresponding Author Yosuke Arai [email protected] orcid.org/0009-0002-5143-4661 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan Correspondence Yosuke Arai, Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan. Email: [email protected]Search for more papers by this authorKen Okamura, Ken Okamura orcid.org/0000-0001-7366-3233 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorToru Saito, Toru Saito orcid.org/0000-0003-3769-8361 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorYoshihiko Ito, Yoshihiko Ito Akashi Dermatology Clinic, Yamagata, JapanSearch for more papers by this authorTamio Suzuki, Tamio Suzuki Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this author Yosuke Arai, Corresponding Author Yosuke Arai [email protected] orcid.org/0009-0002-5143-4661 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan Correspondence Yosuke Arai, Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan. Email: [email protected]Search for more papers by this authorKen Okamura, Ken Okamura orcid.org/0000-0001-7366-3233 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorToru Saito, Toru Saito orcid.org/0000-0003-3769-8361 Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this authorYoshihiko Ito, Yoshihiko Ito Akashi Dermatology Clinic, Yamagata, JapanSearch for more papers by this authorTamio Suzuki, Tamio Suzuki Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, JapanSearch for more papers by this author First published: 27 September 2023 https://doi.org/10.1111/1346-8138.16983Read 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 1Prange B, Marini A, Kalke A, Hodzic-Avdagic N, Ruzicka T, Hengge UR. Acute localized exanthematous pustulosis (ALEP). J Dtsch Dermatol Ges. 2005; 3: 210–212. 2Safa I, Ines L, Noureddine L, Meriem J, Manel N, Belhajali H, et al. Acute localized exanthematous pustulosis: clinical features, pathophysiology, and therapy. Dermatol Ther. 2021; 34:e15087. 3Bassetti M, Massone C, Vena A, Dettori S, Conforti C, Giacobbe DR, et al. Skin manifestations in patients with coronavirus disease 2019. Curr Opin Infect Dis. 2022; 35: 88–94. 4Bellón T. Mechanisms of severe cutaneous adverse reactions: recent advances. Drug Saf. 2019; 42: 973–992. 5Hayakawa J, Takakura H, Mizukawa Y, Shiohara T. COVID-19-related cutaneous manifestations associated with multiple drug sensitization as shown by lymphocyte transformation test. J Eur Acad Dermatol Venereol. 2020; 34: e779–e781. Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation

Inflammatory vitiligo, also known as vitiligo with inflammatory raised borders, is a rare form of vitiligo; its incidence is reported to be 0.5% of all vitiligo cases [ [1] Le Poole I.C. van den Wijngaard R.M. Westerhof W. Das P.K. Presence of T cells and macrophages in inflammatory vitiligo skin parallels melanocyte disappearance. The American journal of pathology. 1996; 148: 1219-1228 PubMed Google Scholar ]. This type of vitiligo is thought to be one of the markers of the active progressive phase of the disease [ [2] Bergqvist C. Ezzedine K. Vitiligo: A focus on pathogenesis and its therapeutic implications. J Dermatol. 2021; 48: 252-270 Crossref PubMed Scopus (78) Google Scholar ]. However, the aetiology of this condition is poorly understood. Here, we report two distinct cases of inflammatory vitiligo and provide new insights into its development.