A Case of a Family with Knuckle Pads, Deafness and Palmoplantar Hyperkeratosis.
- Author:
Young Tae KIM
1
;
Wan Soo KIM
;
Young Lip PARK
;
Moon Kyun CHO
;
Kyu Uang WHANG
Author Information
1. Department of Dermatology, College of Medicine, Soonchunhyang University Seoul, Korea. kevinkyt@lycos.co.kr
- Publication Type:Case Report
- Keywords:
Knuckle Pads;
Hearing loss;
Palmoplantar hyperkeratosis;
Leukonychia
- MeSH:
Deafness*;
Female;
Hearing Loss;
Hearing Loss, Mixed Conductive-Sensorineural;
Humans;
Inheritance Patterns
- From:Korean Journal of Dermatology
2003;41(8):1057-1060
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The syndrome with knuckle pads, leukonychia, deafness and palmoplantar hyperkeratosis have been presented by several previous reports since the Bart and Pumphrey's report. This syndrome is that inheritance pattern is autosomal dominant trait. We report a case of a family with hereditary progressive palmoplantar hyperkeratosis, which is invariably associated with knuckle pads and a progressive mixed hearing loss. We think that these traits may not be inherited as an autosomal dominant trait because affected members of the family are all female but may be possibly autosomal dominant. The difference with other previous reports is that all members of the family don't have leukonychia. Therefore, we suggest that this is another variant case of this syndrome.
