Egyptian Journal of Medical Human Genetics

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Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient

SM Elsayed, NS Seifeldeen, H Bolz


Keratitis ± ichthyosis ± deafness (KID) syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness. Other ocular manifestations include corneal epithelial defects and scarring, which
cause progressive decline of visual acuity and may eventually lead to blindness. To our knowledge, few cases have been reported worldwide and none were reported from the Middle East Arab countries. Here we report the first Egyptian patient with this syndrome.

AJOL African Journals Online