{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T23:30:28Z","timestamp":1783121428494,"version":"3.54.6"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81730084"],"award-info":[{"award-number":["81730084"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81903195"],"award-info":[{"award-number":["81903195"]}],"id":[{"id":"10.13039\/501100001809","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":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nagashima\u2010type palmoplantar keratoderma (NPPK) is the most prevalent hereditary palmoplantar keratoderma (PPK) in China, but there is a paucity of epidemiological data on the Chinese population. To explore the clinical and genetic characteristics, evaluate the demographic distribution, and estimate the burden of disease of NPPK. A total of 234 Chinese patients with NPPK were enrolled from two medical centers and an online PPK support group. Next\u2010generation sequencing and Sanger sequencing were performed to screen out and confirm pathogenic mutations in <jats:italic>SERPINB7<\/jats:italic>. Clinical features and quality of life (QOL) were evaluated using self\u2010completed questionnaires. In total, 14 pathogenic mutations were identified in <jats:italic>SERPINB7<\/jats:italic> from the cohort. The top four recurrent mutations were c.796C&gt;T (355, 75.9%), c.522dupT (66, 14.1%), c.650_653delCTGT (24, 5.1%), and c.455G&gt;T (12, 2.6%), accounting for 97.6% of Chinese NPPK patients. Other mutations (11, 2.4%) include c.455\u20101G&gt;T, c.336+2T&gt;G, c.635delG and seven novel mutations c.2T&gt;C, c.434delG, c.455\u201016A&gt;G, c.656T&gt;C, c.745\u2010553T&gt;G, c.832C&gt;T, c.1036G&gt;T. The estimated prevalence of NPPK in China was found to be 0.975\/10\u2009000 based on Chinese databases. Clinically, there were no apparent genotype\u2013phenotype correlations in NPPK patients. Pediatric patients mainly presented with palmoplantar peeling, while adults presented with scale (<jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001). The most common comorbidities in NPPK patients were onychomycosis (40.0%), eczema (36.8%), and tinea pedis (30.3%). As for burden of disease, NPPK patients' QOL was decreased by a moderate degree. In this study, pathogenic mutations' allele frequencies in <jats:italic>SERPINB7<\/jats:italic> were updated, and prevalence of NPPK in China was estimated. This large\u2010scale cohort study provides evidence\u2010based recommendations for patient management. Identification of new mutations are important for timely diagnosis of NPPK. Palmoplantar peeling in children can be used as a hallmark for early recognition of NPPK.<\/jats:p>","DOI":"10.1111\/1346-8138.16621","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T07:30:15Z","timestamp":1667287815000},"page":"375-382","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Investigation of Nagashima\u2010type palmoplantar keratoderma in China: A cross\u2010sectional study of 234 patients"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1283-5649","authenticated-orcid":false,"given":"Juan","family":"Liu","sequence":"first","affiliation":[{"name":"Center for Global Health, School of Public Health Nanjing Medical University  Nanjing China"},{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University  Nanjing 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5517-023X","authenticated-orcid":false,"given":"Zhongya","family":"Song","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 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2394-1896","authenticated-orcid":false,"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 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