Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.
نویسندگان
چکیده
منابع مشابه
Aquagenic keratoderma associated with a mutation of the cystic fibrosis gene.
Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR) has been highlighted. The authors describe an 18 year-old female, with one-month complai...
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Aquagenic keratoderma (AK) or aquagenic wrinklingis a rare palmoplantar skin disease. It is sporadic orhereditary condition. It appears in childhood or youngadulthood and it is seen as multiple asymptomaticsmall shiny papules on the peripheral margin ofpalms and/or soles after submersion in water. Thepathogenesis and etiology of ASA remains unclear.Drugs sometimes trigger AK. Herein, we present...
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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 w...
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Fig 1. Aquagenic palmoplantar keratoderma. Whitish cobblestonelike papules on bilateral palms. CASE REPORT Ahealthy 13-year-old Hispanic girl presentedwith a 3.5-year history of roughness of her hands on contact with water. She reported that her hands turned ‘‘white and raised’’ with immersion in water, but did not report any associated pruritus, burning sensation, or pain in her hands. She had...
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Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation (A7445G) of the mito-chondrial t-RNA coded for serine (MT-TS1) is created. Case Report: On skin examination of a 7 year old boy, we observed hyper...
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ورودعنوان ژورنال:
- Acta dermato-venereologica
دوره 96 6 شماره
صفحات -
تاریخ انتشار 2016