An audiological profile of keratitis-ichthyosis-deafness syndrome
DOI:
https://doi.org/10.18203/2320-6012.ijrms20222288Keywords:
Keratitis-ichthyosis-deafness, Auditory brain-stem response, Otoacoustic emission, SyndromeAbstract
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.
References
National Organization for Rare Disorders (NORD). Fact sheet: Keratitis ichthyosis deafness syndrome, 2006. Available at: https://rarediseases.org/rare-diseases/keratitis-ichthyosis-deafness-syndrome. Accessed on 14 May 2022.
Medline. Fact sheet: Keratitis-ichthyosis-deafness syndrome. Genetics Home Reference, 2012. Available at: https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome. Accessed on 14 May 2022.
Binder B, Hennies HC, Kraschl R, Smolle J. Connexin‐26‐Mutation bei, keratitis‐ichthyosis‐deafness‐syndrom (KID‐Syndrom) Connexin 26 mutation and keratitis‐ichthyosis‐deafness (KID) Syndrome. J der Deutschen Dermatologischen Gesellschaft. 2005;3(2):105-8.
Mazereeuw‐Hautier J, Bitoun E, Chevrant‐Breton J, Man SY, Bodemer C, Prins C, et al. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007;156(5):1015-9.
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Human Genet. 2002;70(5):1341-8.
Enei ML, Cassettari A, Córdova S, Torres O, Paschoal F. Do you know this syndrome?. Anais brasileiros de dermatologia. 2011;86:819-21.
Iossa S, Marciano E, Franzé A. GJB2 gene mutations in syndromic skin diseases with sensorineural hearing loss. Curr Genomics. 2011;12: 475-85.
Steensel MA. Gap junction diseases of the skin. Am J Med Genet C Semin Med Genet. 2004;131(1):12-9.
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005;112(2):1-6.
Bygum A, Betz RC, Kragballe K, Steiniche T, Peeters N, Wuyts W, et al. KID syndrome: report of a Scandinavian patient with connexin-26 gene mutation. Acta Dermato Venereolog. 2005;85(2):152-5.
Bondeson ML, Nyström AM, Gunnarsson U, Vahlquist A. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. Acta Dermato Venereolog. 2006;86(6):503-8.
Huang JT, Mallon K, Hamill S, Ohlms LA, Liang MG. Frequency of ear symptoms and hearing loss in ichthyosis: a pilot survey study. Pediatr Dermatol. 2014;31(3):276-80.
Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Molecul Med. 2009;11.
Xu J, Nicholson BJ. The role of connexins in ear and skin physiology-functional insights from disease-associated mutations. Biomembranes. 2013;1828(1):167-78.
Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol. 1981;117(5):285-9.
Caceres‐Rios H, Tamayo‐Sanchez L, Duran‐Mckinster C, Orozco MD, Ruiz‐Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol. 1996;13(2):105-13.
Langer K, Konrad K, Wolff K. Keratitis ichthyosis and deafness (KID)‐syndrome: report of three cases and a review of the literature. Br J Dermatol. 1990;122(5):689-97.
Traboulsi E, Waked N, Mégarbané H, Mégarbané A. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalm Genet. 2004;25(2):153-6.