The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protei...

Source: BMC Dermatology - June 3, 2016 Category: Dermatology Authors: Anne Bruun Krøigård, Liv Eline Hetland, Ole Clemmensen, Diana C. Blaydon, Jens Michael Hertz and Anette Bygum Source Type: research