Literature DB >> 16688648

[Patient with severe corneal disease in KID syndrome].

P Gómez-Faiña1, A T Ruiz-Viñals, J A Buil-Calvo, A España-Albelda, M Pazos-López, M Castilla-Céspedes.   

Abstract

CASE REPORT: A 33-year-old woman with superficial and deep bilateral corneal vascularization and keratoconjunctivitis sicca, keratoerythema and neurosensory deafness, was diagnosed with keratitis-ichthyosis-deafness (KID) syndrome. DISCUSSION: KID syndrome is a congenital ectodermal dysplasia characterized by the association of vascularizing keratitis, hyperkeratotic skin lesions and sensorineural hearing loss. Recently, limbal stem cell deficiency was recognized as a possible major pathogenetic factor.

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Year:  2006        PMID: 16688648     DOI: 10.4321/s0365-66912006000400010

Source DB:  PubMed          Journal:  Arch Soc Esp Oftalmol        ISSN: 0365-6691


  2 in total

1.  Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Authors:  Anna Kutkowska-Kaźmierczak; Katarzyna Niepokój; Katarzyna Wertheim-Tysarowska; Aleksandra Giza; Maria Mordasewicz-Goliszewska; Jerzy Bal; Ewa Obersztyn
Journal:  J Appl Genet       Date:  2015-01-10       Impact factor: 3.240

2.  Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder.

Authors:  Vinay Shanker; Mudita Gupta; Aditi Prashar
Journal:  Indian Dermatol Online J       Date:  2012-01
  2 in total

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