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)
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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
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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
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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
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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
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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