An audiological profile of keratitis-ichthyosis-deafness syndrome

Authors

  • Rahul Kumar Lonhare Department of ENT, Audiology Unit, Pt. JNM Medical College, Raipur, Chhattisgarh, India
  • Imran Ansari Department of ENT, Audiology Unit, Pt. JNM Medical College, Raipur, Chhattisgarh, India
  • Preeti Sahu Department of ENT and HNS, All India Institute of Medical sciences (AIIMS), Raipur, Chhattisgarh, India http://orcid.org/0000-0001-8118-5171
  • Debadatta Mahallik Department of ENT, Audiology Unit, Pt. JNM Medical College, Raipur, Chhattisgarh, India http://orcid.org/0000-0002-4889-7131

DOI:

https://doi.org/10.18203/2320-6012.ijrms20222288

Keywords:

Keratitis-ichthyosis-deafness, Auditory brain-stem response, Otoacoustic emission, Syndrome

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) with sensorineural hearing impairment. The skin of the palms of the hand, soles of the feet and the nails may be affected. Most cases are sporadic caused by mutations in the (GJB2 gene). Most cases are sporadic but familial cases with autosomal dominant inheritance have been reported a rare congenital ectodermal disorder characterized by vascularising keratitis hyperkeratotic skin lesions and hearing loss. The 2-year male child was presented at audiology and speech pathology unit department of ENT at Pt. Jawaharlal Nehru memorial hospital, Raipur, patient came with the complaint of inability to hear since birth. The present report outlined persistent severe sensorineural hearing loss in child with KID syndrome.

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Published

2022-08-29

How to Cite

Lonhare, R. K., Ansari, I., Sahu, P., & Mahallik, D. (2022). An audiological profile of keratitis-ichthyosis-deafness syndrome. International Journal of Research in Medical Sciences, 10(9), 2047–2051. https://doi.org/10.18203/2320-6012.ijrms20222288

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Section

Case Reports