Resumen de Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation
Carmen Esmer, Julio César Salas Alanis, Óscar Raúl Fajardo Ramírez, Brenda Crabtree Ramírez, Rong-Hua Lu, Keith Choate
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-ichthyosisdeafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases. (REV INVES CLIN. 2016;68:143-6)
