Literature DB >> 21987161

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Maria Leonor Enei1, Andrea Cassettari, Sebastián Córdova, Orlando Torres, Francisco Paschoal.   

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting skin, the corneal epithelium and inner ear. Clinical signs consist of erythrokeratodermal plaques on the face and skin folds, usually present from birth, as well as severe and bilateral sensorineural hearing loss and corneal vascularization associated with slow-progressing keratitis which follows skin and hearing changes at puberty. In view of symptoms of deafness, blindness, skin infections and the risk of malignant degeneration, early diagnosis of the syndrome is essential, together with clinical follow-up and genetic counseling.

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Year:  2011        PMID: 21987161     DOI: 10.1590/s0365-05962011000400037

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  2 in total

1.  Novel Variant c.148G>T of GJB2 Gene in a 5-Year-Old Child with KID Syndrome.

Authors:  Francesca Caroppo; Serena Szekely; Anna B Fortina
Journal:  Indian Dermatol Online J       Date:  2020-11-08

2.  Keratitis-ichthyosis-deafness syndrome: first affected family reported in the Middle East.

Authors:  Hamad Al Fahaad
Journal:  Int Med Case Rep J       Date:  2014-03-25
  2 in total

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