title: Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.
abstract: Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. We report here two patients, one with KID and one with Vohwinkel syndrome. Both displayed unusual clinical features and responded well to long-term treatment with oral retinoid. Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome. The clinical features, particularly a proneness to skin cancer in the patient with Vohwinkel syndrome, are discussed in relation to the identified genotypes.
authors.affiliation: Department of Genetics and Pathology, University of Uppsala, Sweden. marielouise.bondeson@genpat.uu.se
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Bondeson
authors.forename: Anna-Maja
authors.initials: AM
authors.lastname: Nyström
authors.forename: Ulrika
authors.initials: U
authors.lastname: Gunnarsson
authors.forename: Anders
authors.initials: A
authors.lastname: Vahlquist
mesh_terms: D017255:Acitretin / Q000627:therapeutic use*; D000284:Administration, Oral; D000328:Adult; D000368:Aged; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000188:drug therapy* / Q000235:genetics; D007634:Keratitis / Q000188:drug therapy* / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy* / Q000235:genetics; D007641:Keratolytic Agents / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D007641:Keratolytic Agents; D000072259:Connexin 26; D017255:Acitretin