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.
abstract: 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.
  
  
  
  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.
  
  
  
  Palmoplantar keratoderma of Bothnian type, which may be associated with hyperhidrosis, is frequently complicated by fungal infections and may be complicated by Corynebacterium infections.
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. anne.kroeigaard@rsyd.dk.|Department of Clinical Pathology, Odense University Hospital, Odense, Denmark. anne.kroeigaard@rsyd.dk.
authors.forename: Anne Bruun
authors.initials: AB
authors.lastname: Krøigård
authors.affiliation: Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
authors.forename: Liv Eline
authors.initials: LE
authors.lastname: Hetland
authors.affiliation: Department of Clinical Pathology, Odense University Hospital, Odense, Denmark.
authors.forename: Ole
authors.initials: O
authors.lastname: Clemmensen
authors.affiliation: Centre for Cell Biology and Cutaneous Research, Blizard Institute, Bart and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: Diana C
authors.initials: DC
authors.lastname: Blaydon
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.affiliation: Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D000328:Adult; D051402:Aquaporin 5 / Q000235:genetics*; D002648:Child; D003354:Corynebacterium Infections / Q000209:etiology*; D003718:Denmark; D006801:Humans; D006945:Hyperhidrosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D051402:Aquaporin 5
keywords: AQP5 gene; Aquagenic wrinkling; Aquaporin 5; Corynebacterium infection; Diffuse non-epidermolytic palmoplantar keratoderma; Palmoplantar keratoderma of Bothnian type; “Hand-in-the-bucket-sign”