title: A family of Bart-Pumphrey syndrome.
abstract: Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.
authors.affiliation: 2nd Dermatology Clinic, Ankara Numune Education and Research Hospital, Ankara, Turkey. muzeyyengonul@yahoo.com
authors.forename: Müzeyyen
authors.initials: M
authors.lastname: Gönül
authors.forename: Ülker
authors.initials: Ü
authors.lastname: Gül
authors.forename: Pelin
authors.initials: P
authors.lastname: Hizli
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Hizli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005190:Family; D005192:Family Health; D005260:Female; D005533:Foot Dermatoses / Q000235:genetics*; D006229:Hand Dermatoses / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D055815:Young Adult
chemical_list: D017630:Connexins; D000072259:Connexin 26