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.
Subject(s)
Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/genetics , Adolescent , Biopsy, Needle , Connexin 26 , Connexins , Female , Humans , Prognosis , SyndromeABSTRACT
Phytophotodermatitis may not be diagnosed when a patient is seen with erythema and vesicles on the skin. However, with the appropriate medical history, the diagnosis of phytophotodermatitis is easily made. Arch Fam Med. 2000;9:1195-1196
