{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:19:43Z","timestamp":1747181983657,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19K08798"],"award-info":[{"award-number":["19K08798"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a mother and an adult son with Darier's disease. The mother, 76\u2009years old and Japanese, had positivity for anti\u2010desmoglein (Dsg)1 antibodies. She had erythema with hyperkeratosis and seborrheic and interstitial blistering. A high level of anti\u2010Dsg1 antibodies was detected in the serum. Histopathological examination showed acantholysis and direct immunofluorescence testing revealed intercellular IgG and C3 deposition of the epidermis. Although she was diagnosed as having pemphigus foliaceus, the skin lesions slightly improved with immunosuppressive therapy. Her son, 47\u2009years old, had similar skin lesions on the seborrheic and interstitial parts, but the anti\u2010Dsg1 antibodies were negative in his serum. Histopathological examination showed acantholysis and dyskeratotic cells. Although Hailey\u2010Hailey disease was first suspected, no mutation in the <jats:italic>ATP2C1<\/jats:italic> was detected in either patient. Trio\u2010exome analysis including the father showed a heterozygous c.2027C&gt;A transition on exon 14 of <jats:italic>ATP2A2<\/jats:italic>, causing a replacement at amino acid 676 (p.Ala676Asp) in the mother and son only. The two patients were then diagnosed as having Darier's disease. Exome analysis further showed that a novel heterozygous missense mutation of <jats:italic>DSG1<\/jats:italic> was identified only in the affected mother. Anti\u2010Dsg1 antibody\u2010positive Darier's disease is reported here for the first time. Very rare coexistence of Darier's disease and anti\u2010Dsg1 antibody\u2010positivity might be associated with this novel heterozygous <jats:italic>DSG1<\/jats:italic> mutation. Experimental evidence is required to validate this hypothesis.<\/jats:p>","DOI":"10.1111\/1346-8138.16568","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T16:40:55Z","timestamp":1662655255000},"page":"250-253","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Anti\u2010desmoglein 1 antibody\u2010positive mother and antibody\u2010negative child with Darier's disease"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9852-6817","authenticated-orcid":false,"given":"Ami","family":"Kawaguchi","sequence":"first","affiliation":[{"name":"Department of Dermatology Wakayama Medical University  Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kurume University  Kurume Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7027-032X","authenticated-orcid":false,"given":"Hiroshi","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kurume University  Kurume Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8341-7300","authenticated-orcid":false,"given":"Chika","family":"Ohata","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kurume University  Kurume Japan"},{"name":"Department of Dermatology Osaka General Medical Center  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1784-1039","authenticated-orcid":false,"given":"Takahiro","family":"Hamada","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kurume University  Kurume 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Medical Center  Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3000-9711","authenticated-orcid":false,"given":"Nobuo","family":"Kanazawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Wakayama Medical University  Wakayama Japan"},{"name":"Department of Dermatology Hyogo Medical University  Nishinomiya 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