Literature DB >> 2394858

Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome. Case reports of a mother and daughter.

V Nazzaro1, C Blanchet-Bardon, G Lorette, J Civatte.   

Abstract

Keratitis, ichthyosis, and deafness (KID) syndrome in a mother and her daughter is reported. Both patients showed the typical cutaneous abnormality of papillomatous hyperkeratosis, which gave the skin a grainy, rugose, spiculated appearance, together with keratitis with corneal neovascularization and a neurosensory hearing defect. Treatment with etretinate did not benefit the daughter. The mother had marked keratitis with progressive corneal opacification that required repeated bilateral corneal grafts, which were unsuccessful. This is the second report of hereditary transmission of this disorder. An autosomal dominant mode of inheritance is probable.

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Year:  1990        PMID: 2394858     DOI: 10.1016/0190-9622(90)70229-b

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  6 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.  Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome.

Authors:  A R Djalilian; J Y Kim; H N Saeed; E J Holland; C-C Chan
Journal:  Eye (Lond)       Date:  2009-07-10       Impact factor: 3.775

3.  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.  KID Syndrome: A Rare Genodermatosis.

Authors:  Vivek Kumar Dey; Animesh Saxena; Shrini Parikh
Journal:  Indian Dermatol Online J       Date:  2020-01-13

5.  Neonatal erythroderma: diagnostic and therapeutic challenges.

Authors:  Sandipan Dhar; Raghubir Banerjee; Rajib Malakar
Journal:  Indian J Dermatol       Date:  2012-11       Impact factor: 1.494

6.  A case of keratitis, ichthyosis, and deafness syndrome with rickets.

Authors:  Sabina Bhattarai; Arti S Pandey; Sherya Bastakoti; Peter Soderkvist; Mohan Bhusal
Journal:  JAAD Case Rep       Date:  2019-12-19
  6 in total

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