Literature DB >> 3232512

The KID-syndrome in Finland. A report of four cases.

K Tuppurainen1, J Fräki, S Karjalainen, L Paljärvi, R Suhonen, M Ryynänen.   

Abstract

We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.

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Year:  1988        PMID: 3232512     DOI: 10.1111/j.1755-3768.1988.tb04063.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN: 0001-639X


  4 in total

1.  Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Authors:  Gabriele Richard; Fatima Rouan; Colin E Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Wang Jabs; Sherri J Bale; John J DiGiovanna; Jouni Uitto; Laura Russell
Journal:  Am J Hum Genet       Date:  2002-03-22       Impact factor: 11.025

2.  Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis.

Authors:  Tomonobu Hazuku; Kisaburo Yamada; Masamoto Imaizumi; Toru Ikebe; Kei Shinoda; Kazuo Nakatsuka; Kazuhito Sekiguchi; Tatsuro Izumi; Yoshihiro Nishida
Journal:  Case Rep Ophthalmol       Date:  2011-02-21

3.  Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome.

Authors:  Sera Sımsek Derelioglu; Yücel Yılmaz; Sultan Keles
Journal:  Case Rep Dent       Date:  2013-09-18

4.  Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Authors:  Viviana Karina Dalamón; Paula Buonfiglio; Margarita Larralde; Patricio Craig; Vanesa Lotersztein; Keith Choate; Norma Pallares; Vicente Diamante; Ana Belén Elgoyhen
Journal:  BMC Med Genet       Date:  2016-05-04       Impact factor: 2.103

  4 in total

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