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.
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Authors | Müzeyyen Gönül, Ülker Gül, Pelin Hizli, Ömer Hizli |
Journal | Indian journal of dermatology, venereology and leprology
(Indian J Dermatol Venereol Leprol)
Vol. 78
Issue 2
Pg. 178-81
( 2012)
ISSN: 0973-3922 [Electronic] United States |
PMID | 22421650
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Child
- Connexin 26
- Connexins
(genetics)
- Family
- Family Health
- Female
- Foot Dermatoses
(genetics)
- Hand Dermatoses
(genetics)
- Hearing Loss, Sensorineural
(genetics)
- Humans
- Keratoderma, Palmoplantar
(genetics)
- Male
- Middle Aged
- Pedigree
- Young Adult
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