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- 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
Bruun Krøigård, Anne; Hetland, Liv Eline; Clemmensen, Ole; Blaydon, Diana C.; Michael Hertz, Jens; Bygum, Anette; Krøigård, Anne Bruun; Hertz, Jens Michael
- Abstract
<bold>Background: </bold>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.<bold>Case Presentation: </bold>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.<bold>Conclusions: </bold>Palmoplantar keratoderma of Bothnian type, which may be associated with hyperhidrosis, is frequently complicated by fungal infections and may be complicated by Corynebacterium infections.
- Subjects
DENMARK; GENETIC mutation; AQUAPORINS; HYPERHIDROSIS treatment; MYCOSES; PALMOPLANTAR keratoderma; CORYNEBACTERIUM diseases; HYPERHIDROSIS; MEMBRANE proteins
- Publication
BMC Dermatology, 2016, Vol 16, p1
- ISSN
1471-5945
- Publication type
journal article
- DOI
10.1186/s12895-016-0044-3