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- W2107863348 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. (J Am Acad Dermatol 2001;44:376-8.)" @default.
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- W2107863348 date "2001-02-01" @default.
- W2107863348 modified "2023-09-26" @default.
- W2107863348 title "Vohwinkel's syndrome in three generations" @default.
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- W2107863348 doi "https://doi.org/10.1067/mjd.2001.106348" @default.
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