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.

journal_name

J Am Acad Dermatol

authors

Solis RR,Diven DG,Trizna Z

doi

10.1067/mjd.2001.106348

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

376-8

issue

2 Suppl

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(01)58792-7

journal_volume

44

pub_type

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