title: Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients.
abstract: OBJECTIVE
  The objective of this study was to describe long-term outcomes after cochlear implantation in keratitis-ichthyosis-deafness (KID) syndrome, often caused by GJB2 mutations, in the context of other reported cases.  Clinical presentation  and intervention:  The authors conducted correlative clinical and molecular genetic analysis on two implanted patients with KID syndrome, and tabulated their clinical outcomes. Both children had initially successful surgery. In one case, due to skin-related problems, despite extensive  salvage surgery cochlear explantation was required. This patient now communicates with sign language and lip-reading. This contrasts with the outcome for the other patient whereby at post-operative year 10 he is able to easily converse by telephone. Both patients each carry a de novo  148G > A GJB2 mutation.
  
  
  CONCLUSIONS
  Patients with KID syndrome appear to be good candidates for cochlear implantation but may face significant skin-related problems which could disrupt successful post-operative habilitation. Consultation with dermatological colleagues  regarding any new therapies may be warranted.
authors.affiliation: Department of Otolaryngology, Belfast City Hospital, UK. cathy_smyth@yahoo.co.uk
authors.forename: C M
authors.initials: CM
authors.lastname: Smyth
authors.forename: A R
authors.initials: AR
authors.lastname: Sinnathuray
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
authors.forename: J G
authors.initials: JG
authors.lastname: Toner
mesh_terms: D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods*; D003054:Cochlear Implants; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000601:surgery*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D007634:Keratitis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D008297:Male; D009154:Mutation; D018570:Risk Assessment; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26