title: Vohwinkel's syndrome in three generations.
abstract: Vohwinkel's syndrome or keratoderma hereditaria mutilans is a diffuse, honeycombed, palmar, and plantar keratosis usually accompanied by pseudoainhum near the distal interphalangeal creases. The mutilating keratoderma associated with sensorineural hearing loss is thought to have an etiologic basis, resting on a mutation of the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26). This specific mutation results in impaired epidermal differentiation as well as inner ear function. We describe a patient with Vohwinkel's syndrome accompanied by high-frequency sensorineural hearing loss whose mother and son were similarly affected.
authors.affiliation: Department of Dermatology, University of Texas Medical Branch, Galveston, USA.
authors.forename: R R
authors.initials: RR
authors.lastname: Solis
authors.forename: D G
authors.initials: DG
authors.lastname: Diven
authors.forename: Z
authors.initials: Z
authors.lastname: Trizna
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D000072259:Connexin 26; D017630:Connexins; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000235:genetics*; D011379:Prognosis; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26