title: [Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet].
abstract: The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). This hereditary autosomal dominant disease is caused by mutation of the GJB2 gene that encodes the protein connexin 26. In our case it was highly likely that the GJB2 gene in the father carried a spontaneous mutation that was inherited by the daughter.
authors.affiliation: Hals-, Nasen-, Ohrenklinik und Poliklinik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz. sebastian.dippold@unimedizin-mainz.de
authors.forename: S
authors.initials: S
authors.lastname: Dippold
authors.forename: F
authors.initials: F
authors.lastname: Butsch
authors.forename: R
authors.initials: R
authors.lastname: Schopf
authors.forename: A
authors.initials: A
authors.lastname: Keilmann
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002675:Child, Preschool; D003131:Combined Modality Therapy; D000072259:Connexin 26; D017630:Connexins; D003879:Dermatologic Agents / Q000627:therapeutic use*; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006310:Hearing Aids; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009788:Occupational Therapy; D013070:Speech Therapy
chemical_list: D017630:Connexins; D003879:Dermatologic Agents; C000607042:GJB2 protein, human; D000072259:Connexin 26