An unusual mucocutaneous syndrome with sensorineural deafness due to connexin 26 mutations.

ABSTRACT

Mutations of the GJB2 gene, which encodes connexin 26, are related to a range of conditions associated with sensorineural deafness and keratinization disorders. We present the case of a newborn girl with sensorineural deafness, erythematous hyperkeratotic plaques on intertriginous areas, and parakeratosis on the oral and esophageal mucosa. She had an F142L mutation in exon 1 of the GJB2 gene, which was described previously in a patient with a similar phenotype.