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Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation
Carmen Esmer1, Julio C Salas-Alanis2, Oscar R Fajardo-Ramirez2
1Department of Genetics, Hospital Central Dr. Ignacio Morones Prieto, Monterrey, N.L., Mexico.
Abstract:
Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.
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