{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:14:16Z","timestamp":1772993656311,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Congenital alopecia\/hypotrichosis constitutes a spectrum of rare inherited hair disorders characterized by partial to complete alopecia and possible structural hair shaft defects. The lanosterol synthase (\n                    <jats:italic>LSS<\/jats:italic>\n                    ) gene, implicated in cholesterol biosynthesis, has emerged as a novel genetic determinant of congenital hypotrichosis. This article describes a 43\u2010year\u2010old female with congenital lanugo\u2010like scalp hair and absence of eyebrows who later developed painful fibrotic constrictive bands on her fingers, culminating in pseudoainhum, but without manifestations of typical palmoplantar keratoderma (PPK). Whole\u2010exome sequencing detected a novel homozygous variant (c.508G&gt;A; p. Asp170Asn) in the\n                    <jats:italic>LSS<\/jats:italic>\n                    gene. This case delineates an atypical\n                    <jats:italic>LSS<\/jats:italic>\n                    variant presentation associated with pseudoainhum phenotype, manifesting without classic PPK features, a previously unreported phenotypic combination. Our findings expand the phenotypic spectrum of\n                    <jats:italic>LSS<\/jats:italic>\n                    \u2010related disorders and underscore the potential role of lipid signaling in hair follicle biology and the pseudoainhum phenomenon.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.17732","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T08:30:51Z","timestamp":1744792251000},"page":"1103-1106","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel\n                    <i>LSS<\/i>\n                    variant leading to hypotrichosis with pseudoainhum"],"prefix":"10.1111","volume":"52","author":[{"given":"Lili","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatologic Surgery Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2971-1282","authenticated-orcid":false,"given":"Jingya","family":"Zhang","sequence":"additional","affiliation":[{"name":"Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College  Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihe","family":"Liu","sequence":"additional","affiliation":[{"name":"Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College  Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3097-0126","authenticated-orcid":false,"given":"Zhiming","family":"Chen","sequence":"additional","affiliation":[{"name":"Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College  Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7668-3309","authenticated-orcid":false,"given":"Yong","family":"Yang","sequence":"additional","affiliation":[{"name":"Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College  Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Mo","sequence":"additional","affiliation":[{"name":"Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College  Nanjing Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16204"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15679"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15010"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63355"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14348"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2022.03.023"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2320"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15697"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.14774"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2012.5578.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2007.02224.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.15449"}],"container-title":["The 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