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

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

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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.

Original languageEnglish
Article number7
JournalBMC Dermatology
Volume16
Number of pages6
ISSN1471-5945
DOIs
Publication statusPublished - 3. Jun 2016

Keywords

  • "Hand-in-the-bucket-sign"
  • AQP5 gene
  • Aquagenic wrinkling
  • Aquaporin 5
  • Corynebacterium infection
  • Diffuse non-epidermolytic palmoplantar keratoderma
  • Palmoplantar keratoderma of Bothnian type

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