{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:17:59Z","timestamp":1780528679373,"version":"3.54.1"},"reference-count":272,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T00:00:00Z","timestamp":1609286400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis\/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.<\/jats:p>","DOI":"10.3390\/genes12010043","type":"journal-article","created":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T09:35:23Z","timestamp":1609320923000},"page":"43","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Hereditary Hearing Impairment with Cutaneous Abnormalities"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7764-9284","authenticated-orcid":false,"given":"Tung-Lin","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Medical Education, National Taiwan University Hospital, Taipei City 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Hsuan","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 11556, Taiwan"},{"name":"Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5640-3074","authenticated-orcid":false,"given":"Pei-Lung","family":"Chen","sequence":"additional","affiliation":[{"name":"Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan"},{"name":"Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei City 100, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan"},{"name":"Department of Internal Medicine, National Taiwan University Hospital, Taipei 10041, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Bon","family":"Hong","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei City 100, Taiwan"},{"name":"Department of Dermatology, National Taiwan University Hospital, Taipei City 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Chi","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Taiwan University Hospital, Taipei 11556, Taiwan"},{"name":"Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan"},{"name":"Department of Medical Research, National Taiwan University Biomedical Park Hospital, Hsinchu City 300, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014A silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. 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