Hereditary Hearing Impairment with Cutaneous Abnormalities

Genes (Basel). 2020 Dec 30;12(1):43. doi: 10.3390/genes12010043.


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.

Keywords: cutaneous abnormalities; genetic diagnosis; precision medicine; syndromic hereditary hearing impairment.

Publication types

  • Review

MeSH terms

  • Albinism, Oculocutaneous / complications
  • Albinism, Oculocutaneous / genetics*
  • Albinism, Oculocutaneous / pathology
  • Cockayne Syndrome / complications
  • Cockayne Syndrome / genetics*
  • Cockayne Syndrome / pathology
  • Deafness / complications
  • Deafness / congenital
  • Deafness / genetics*
  • Deafness / pathology
  • Endothelins / genetics
  • Gene Expression
  • Humans
  • Keratoderma, Palmoplantar / complications
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Polymorphism, Genetic
  • Precision Medicine
  • Skin / metabolism
  • Skin / pathology
  • Transcription Factors / genetics
  • Waardenburg Syndrome / complications
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology
  • Xeroderma Pigmentosum / complications
  • Xeroderma Pigmentosum / congenital
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / pathology


  • Endothelins
  • Transcription Factors

Supplementary concepts

  • Tietz syndrome