KID sendromu | keratitis-ichthyosis-deafness |

KID sendromu

Keratitis-ichthyosis-deafness

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