Vohwinkel's syndrome in three generations

Vohwinkel's syndrome or keratoderma hereditaria mutilans is a diffuse, hone ycombed, palmar, and plantar keratosis usually accompanied by pseudoainhum near the distal interphalangeal creases. The mutilating keratoderma associa ted with sensorineural hearing loss is thought to have an etiologic basis, resting on a mutation of the GJB2 gene, which encodes the gap junction prot ein connexin26 Cx26). This specific mutation results in impaired epidermal differentiation as well as inner ear function. We describe a patient with V ohwinkel's syndrome accompanied by high-frequency sensorineural hearing los s whose mother and son were similarly affected.