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Hereditary Hearing Impairment with Cutaneous Abnormalities.

Tung-Lin Lee1, Pei-Hsuan Lin2,3, Pei-Lung Chen3,4,5,6

  • 1Department of Medical Education, National Taiwan University Hospital, Taipei City 100, Taiwan.

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|January 5, 2021
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Summary
This summary is machine-generated.

Skin findings are key to early diagnosis of syndromic hereditary hearing impairment (HHI). This study maps cutaneous manifestations to genetic causes, aiding identification of HHI with skin abnormalities.

Keywords:
cutaneous abnormalitiesgenetic diagnosisprecision medicinesyndromic hereditary hearing impairment

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Area of Science:

  • Genetics
  • Dermatology
  • Otolaryngology

Background:

  • Syndromic hereditary hearing impairment (HHI) presents diverse clinical and etiological features.
  • Cutaneous findings in HHI are often more readily observed than auditory symptoms, particularly in infants and young children.
  • Establishing a link between skin manifestations and genetic causes is crucial for early HHI diagnosis.

Purpose of the Study:

  • To create a correlation map between cutaneous abnormalities and their underlying genetic causes in syndromic HHI.
  • To facilitate early identification and diagnosis of syndromic HHI through analysis of skin manifestations.
  • To provide a framework for understanding the phenotypic features and pathogenetic mechanisms of HHI with cutaneous involvement.

Main Methods:

  • Comprehensive literature search of the PubMed database for syndromic HHI with cutaneous abnormalities.
  • Review and analysis of 260 relevant scientific publications.
  • Classification of cutaneous manifestations into distinct categories based on observed features.

Main Results:

  • Cutaneous manifestations associated with HHI were categorized into three main groups: pigmentary disorders, hyperkeratosis/nail abnormalities, and connective tissue disorders.
  • Each category of cutaneous findings involves unique molecular pathogenesis mechanisms.
  • The study identified distinct correlations between specific skin conditions and underlying genetic causes of HHI.

Conclusions:

  • The classification of cutaneous manifestations provides a valuable atlas for clinicians and researchers studying syndromic HHI.
  • This framework aids in the clinical and molecular diagnosis of syndromic HHI with associated skin findings.
  • Understanding the interplay between skin and hearing impairment is essential for comprehensive management of HHI.