Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness) Syndrome

Authors

  • V.A. Klymenko Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv
  • O.P. Zdybska Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv
  • T.V. Sirenko Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv
  • O.M. Plakhotna Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv
  • N.R. Viun Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv

DOI:

https://doi.org/10.22141/2224-0551.6.66.2015.75032

Keywords:

KID syndrome, a diagnosis of children in infancy

Abstract

A clinical case of keratitis-ichthyosis-deafness (KID syndrome) in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

Author Biographies

V.A. Klymenko, Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv

Department of Propedeutics of Pediatrics № 2, Department of Medical Genetics

O.P. Zdybska, Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv

Department of Propedeutics of Pediatrics № 2, Department of Medical Genetics

T.V. Sirenko, Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv

Department of Propedeutics of Pediatrics № 2, Department of Medical Genetics

O.M. Plakhotna, Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv

Department of Propedeutics of Pediatrics № 2, Department of Medical Genetics

N.R. Viun, Kharkiv National Medical University; Municipal Health Care Institution «Kharkiv Regional Pediatric Clinical Hospital № 1», Kharkiv

Department of Propedeutics of Pediatrics № 2, Department of Medical Genetics

References

MSD, Мерк, Шарп и Доуш. Руководство по медицине. — М.: Мир. — Т. II. Нарушение кератинизации. — С. 624-625.

Маркова Т.Г. Диагностика синдрома кератина-ихтиоза-глухоты (КИД-синдром) / Т.Г. Маркова, Н.Б. Бражкина, А.В. Поляков и др. // Вестник отоларингологии. — 2012. — 3. — С. 58-61.

Zhang X. B. Mutation of GIB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation / X.B. Zhang, S.C. Wei, C.X. Hi et al. / Clin. Exp. Dermatol. — 2009. — 34. — 309-313.

Nygnist G.G. Malignant proliferating pillar fumors arising in KID syndrome: a report of two patient / G.G. Nygnist, C. Mumm, R. Gran et al. // Am. I. Med. Genet. — 2007. — 734-741.

Caceres-Rios H. Kerathyosis, and defness (KID sindrome), prevue of the literature and proposed of a new terminology / H. Caceres-Rios, Tamayo-Sanchez C., Duran-McKinser O.M. et al. // Pediatr. Dermatol. — 1996. — 13, 2. — 105-113.

Kone-Poul I., Hesse S., Palix C. et al. Keratitis, ichthyosis and deafness (KID syndrome) in half sibs // Pediat. Dermatol. — 1998. — 15, 3. — 219-221.

Richard G. Messene mutations in GIB2 encoding connexin-26 the ectodermal desplasia keratitis-ichthyosis-deafness syndrome / G. Richard, F. Rouan, C.E. Willaughby et al. // Am. I. Hum Ge-net. — 2002. — 70. — 1341-1348.

Alvares A.S. De novo mutation in the gene encoding connexin-26 (GIB2) in a sporadic case of keratitis- ichthyosis-deafness (KID) syndrome / A.S. Alvares, M. Pera, M.A. Villamar // Am. I. Med. Genet A. — 2003. — 117. — P. 89-91.

Nyguist G.G. Malignant proliferation pillar tumors arising in KID syndrome: a report of two patients / G.G. Nyguist, C. Mumm, R. Grau et al. // Am. I. Med. Genet. — 2007. — 143. — 734-741.

Griffith A.J. Cochleosaccular dysplasia associrted with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome / A.J. Griffith, I. Iong, S.P. Prior et. аl. // Laringoscope. — 2006. — 116. — 1404-1408.

Published

2015-10-07

Issue

Section

Case Report