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Abstract

Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation

VOLUME 68 - NUMBER 3 / May - June (Original articles)

Carmen Esmer, Department of Genetics, Hospital Central Dr. Ignacio Morones Prieto, Monterrey, N.L., Mexico
Julio C. Salas-Alanis, Department of Basic Sciences, Universidad de Monterrey, Monterrey, N.L., Mexico
Óscar Raúl Fajardo-Ramírez, department of Basic Sciences, Universidad de Monterrey, Monterrey, N.L., Mexico
Brenda Ramírez, Department of Pediatric Dermatology, Hospital del Niño y la Mujer, Monterrey, N.L., Mexico
Rong Hua, Department of Dermatology, Yale University School of Medicine, New Haven, USA
Keith Choate, Department of Dermatology, Yale University School of Medicine, New Haven, USA

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.

Keywords: KID syndrome. A88V mutation. Keratoderma.

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