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.

Autor: Krøigård AB; 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., Hetland LE; Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark., Clemmensen O; Department of Clinical Pathology, Odense University Hospital, Odense, Denmark., Blaydon DC; 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., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Bygum A; Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
Jazyk: angličtina
Zdroj: BMC dermatology [BMC Dermatol] 2016 Jun 03; Vol. 16 (1), pp. 7. Date of Electronic Publication: 2016 Jun 03.
DOI: 10.1186/s12895-016-0044-3
Abstrakt: 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.
Databáze: MEDLINE
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