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Hereditary Hearing Impairment with Cutaneous Abnormalities

by 1, 2,3, 3,4,5,6, 4,7,* and 2,3,5,8,*
1
Department of Medical Education, National Taiwan University Hospital, Taipei City 100, Taiwan
2
Department of Otolaryngology, National Taiwan University Hospital, Taipei 11556, Taiwan
3
Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan
4
Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei City 100, Taiwan
5
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
6
Department of Internal Medicine, National Taiwan University Hospital, Taipei 10041, Taiwan
7
Department of Dermatology, National Taiwan University Hospital, Taipei City 100, Taiwan
8
Department of Medical Research, National Taiwan University Biomedical Park Hospital, Hsinchu City 300, Taiwan
*
Authors to whom correspondence should be addressed.
Genes 2021, 12(1), 43; https://doi.org/10.3390/genes12010043
Received: 21 November 2020 / Revised: 25 December 2020 / Accepted: 26 December 2020 / Published: 30 December 2020
(This article belongs to the Section Human Genomics and Genetic Diseases)
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. View Full-Text
Keywords: syndromic hereditary hearing impairment; cutaneous abnormalities; genetic diagnosis; precision medicine syndromic hereditary hearing impairment; cutaneous abnormalities; genetic diagnosis; precision medicine
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MDPI and ACS Style

Lee, T.-L.; Lin, P.-H.; Chen, P.-L.; Hong, J.-B.; Wu, C.-C. Hereditary Hearing Impairment with Cutaneous Abnormalities. Genes 2021, 12, 43. https://doi.org/10.3390/genes12010043

AMA Style

Lee T-L, Lin P-H, Chen P-L, Hong J-B, Wu C-C. Hereditary Hearing Impairment with Cutaneous Abnormalities. Genes. 2021; 12(1):43. https://doi.org/10.3390/genes12010043

Chicago/Turabian Style

Lee, Tung-Lin, Pei-Hsuan Lin, Pei-Lung Chen, Jin-Bon Hong, and Chen-Chi Wu. 2021. "Hereditary Hearing Impairment with Cutaneous Abnormalities" Genes 12, no. 1: 43. https://doi.org/10.3390/genes12010043

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