<i>AQP5</i>, a second gene at play with <i>CFTR</i> in aquagenic palmoplantar keratoderma

Sperelakis-Beedham, Brian; Lopez, Maureen; Bourrat, E.; Gaitch, N; Houriez, Florence; Martinez, B; Fajac, Isabelle; Burgel, P.-R.; Hickman, G.; Audrézet, Marie-Pierre; Gonde, D; Cabet, F.; Gerfaud‐Valentin, Mathieu; Nové-Josserand, R.; Raynal, Caroline; Pagin, A.; Reboul, M; Becdelièvre, Alixde; Bienvenu, Thierry; Callebaut, Isabelle; Girodon, Emmanuelle

doi:10.1111/jdv.18869

Cited by 2 publications

(2 citation statements)

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“…The water channels aquaporin 3 and 5 have been shown to be dysfunctional, and that may explain the water retention seen in aquagenic keratoderma. 2 , 3 Among patients with cystic fibrosis, the water‐electrolytes homoeostasis impairment within the skin is viewed as a result of a mutation in the CFTR gene ( cystic fibrosis transmembrane conductance regular ), a gene responsible for transporter ion channel proteins that transport chloride and bicarbonate ions across cell membranes. 4 CFTR protein is thought to have a functional coupling with aquaporin 3 where it imposes a triggering effect on water influx through aquaporin 3.…”

Section: Discussionmentioning

confidence: 99%

“…It has been postulated that the skin homoeostasis of water and electrolytes is impaired. The water channels aquaporin 3 and 5 have been shown to be dysfunctional, and that may explain the water retention seen in aquagenic keratoderma 2,3 . Among patients with cystic fibrosis, the water‐electrolytes homoeostasis impairment within the skin is viewed as a result of a mutation in the CFTR gene ( cystic fibrosis transmembrane conductance regular ), a gene responsible for transporter ion channel proteins that transport chloride and bicarbonate ions across cell membranes 4 .…”

Section: Discussionmentioning

confidence: 99%

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Wood's light as a noval diagnostic tool in aquagenic keratoderma

Alkhayal,

AlMuqrin

2024

Skin Health and Disease

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Aquagenic keratoderma, also known as aquagenic wrinkling of the palms, transient reactive papulotranslucent acrokeratoderma, or transient aquagenic hyper‐wrinkling, is an uncommon disorder that affects the palms and occasionally the soles. It presents with translucent whitish to yellowish papules and increased wrinkling upon water exposure. The frequency of this condition is yet to be determined among the general population. However, it is frequently observed in patients among patients with cystic fibrosis or carriers of the cystic fibrosis gene, with frequency estimated to be up to 41%. In this paper, we report the utility and novelty of Wood's light as a bedside adjunct tool to aid in diagnosing aquagenic keratoderma. To our knowledge, this is the first case reporting the use of Wood's light in diagnosing aquagenic keratoderma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%