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BMC Dermatology
Published in: BMC Dermatology 1/2016

Open Access 01-12-2016 | Case report

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

Authors: Anne Bruun Krøigård, Liv Eline Hetland, Ole Clemmensen, Diana C. Blaydon, Jens Michael Hertz, Anette Bygum

Published in: BMC Dermatology | Issue 1/2016

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Abstract

Background

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 protein aquaporin 5 leading to defective epidermal-water-barrier function in the epidermis of the palms and soles.

Case presentation

We report the first Danish family diagnosed with diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type in which fourteen individuals are potentially affected. The proband, a 36-year-old male had since childhood been affected by pronounced hyperhidrosis of the palms and soles along with palmoplantar keratoderma. He reported a very distinctive feature of the disorder, aquagenic wrinkling, as he developed pronounced maceration of the skin with translucent white papules and a spongy appearance following exposure to water. The patient presented recurrent fungal infections, a wellknown feature of the condition, but also periodic worsening with pitted keratolysis and malodour due to bacterial infections.

Conclusions

Palmoplantar keratoderma of Bothnian type, which may be associated with hyperhidrosis, is frequently complicated by fungal infections and may be complicated by Corynebacterium infections.
Appendix
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Metadata
Title
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
Authors
Anne Bruun Krøigård
Liv Eline Hetland
Ole Clemmensen
Diana C. Blaydon
Jens Michael Hertz
Anette Bygum
Publication date
01-12-2016
Publisher
BioMed Central
Published in
BMC Dermatology / Issue 1/2016
Electronic ISSN: 1471-5945
DOI
https://doi.org/10.1186/s12895-016-0044-3

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