Korean J Dermatol.  2003 Aug;41(8):1057-1060.

A Case of a Family with Knuckle Pads, Deafness and Palmoplantar Hyperkeratosis

• Kim YT
• Kim WS
• Park YL
• Cho MK
• Whang KU

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.

Keyword

Knuckle Pads; Hearing loss; Palmoplantar hyperkeratosis; Leukonychia

MeSH Terms

Deafness*
Female
Hearing Loss
Hearing Loss, Mixed Conductive-Sensorineural
Humans
Inheritance Patterns