K

 

KID sendromu (keratitis-ichthyosis-deafness)

Kalıtsal - AD

Ektodermal displazi bulguları

Kaşlar ve kirpikler seyrek

Kalın-keratinize göz kapakları

Keratokonjunktivit

Fotofobi

Görmede azalma

Kaş ve kirpik dökülmesi

İşitme sorunları

Oral lökoplaki/skuamöz hücreli karsinom

Dil kuru-çatlak

Deride skuamöz hücreli karsinom

Eritrokeratodermi

İktiyoz

Palmoplantar hiperkeratoz

Dizlerde ve dirseklerde hiperkeratoz

Terlemede azalma

Deri infeksiyonları (mantar ve bakteri)

 

  • Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. American Journal of Human Genetics, 70: 1341-1348, 2002

  • Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, et al. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. British Journal of Dermatology, 2007 May;156(5):1015-1019, 2007

  • Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009

  • Homeida L, Wiley RT, Fatahzadeh M. Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, 119(4):e226-232, 2015

  • Patel V, Sun G, Dickman M, et al. Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. Dermatology & Therapy, 28(2):89-93, 2015