Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

Bondeson, Marie-LouiseUppsala universitet,Institutionen för genetik och patologi (author)

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.

Nyström, Anna-MajaUppsala universitet,Institutionen för genetik och patologi (author)
Gunnarsson, UlrikaUppsala universitet,Institutionen för genetik och patologi (author)
Vahlquist, AndersUppsala universitet,Institutionen för medicinska vetenskaper,Dermatologi och venereologi(Swepub:uu)andevahl (author)
Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

In:Acta Dermato-Venereologica: Medical Journals Sweden AB86:6, s. 503-5080001-55551651-2057

By the author/editor: Bondeson, Marie- ...; Nyström, Anna-Ma ...; Gunnarsson, Ulri ...; Vahlquist, Ander ...

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