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Aquagenic Wrinkling of the Palms as a Screening Indicator for Cystic Fibrosis Beyond Infancy
Alexios Alexopoulos1, Dimitrios Ntokos2, Despina Briana3
1First Department of Pediatrics, School of Medicine, Agia Sophia Children's Hospital, National and Kapodistrian University of Athens, Athens, GRC.
Insights
Aquagenic wrinkling of the palms (AWP) can help screen for cystic fibrosis (CF) in children. A brief water immersion (BIW) test showed high accuracy in identifying CF patients, supporting its use in resource-limited settings.
Area of Science:
- Medical Diagnostics
- Genetics
- Dermatology
Background:
- Aquagenic wrinkling of the palms (AWP) is linked to cystic fibrosis (CF).
- AWP may offer a screening tool for CF beyond infancy, especially in resource-limited areas.
- Evaluating AWP's diagnostic utility and reproducibility is crucial.
Purpose of the Study:
- To assess the diagnostic accuracy and reproducibility of a standardized brief immersion in water (BIW) test for identifying cystic fibrosis (CF).
- To explore AWP as a potential screening method for CF in diverse settings.
Main Methods:
- A standardized brief immersion in water (BIW) test was conducted on 100 children with confirmed CF, 50 CFTR mutation carriers, and 100 controls.
- Hands were immersed in water for 11 minutes, with assessments at 3, 7, and 11 minutes.
- Transepidermal water loss (TEWL) was measured post-immersion.
Main Results:
- Early AWP (3 minutes) was observed in 68% of CF patients versus 8% of carriers and 0% of controls.
- Wrinkling with papule formation at 7 minutes offered optimal discrimination (94% sensitivity, 98.3% specificity).
- A TEWL threshold of ≥ 203 g/m²/h distinguished CF patients with 86% sensitivity and 98% specificity.
Conclusions:
- The BIW test is a rapid, reproducible, and feasible diagnostic method for CF, suitable for resource-limited settings.
- A positive 7-minute BIW test result warrants confirmatory CF testing, such as sweat chloride analysis or CFTR genotyping.
Abstract:
Aquagenic wrinkling of the palms (AWP) has been associated with cystic fibrosis (CF) and may support screening approaches beyond infancy in low-resource settings. We evaluated the diagnostic accuracy and reproducibility of a standardized brief immersion in water (BIW) test in 100 children with genetically confirmed CF, 50 heterozygous CF transmembrane conductance regulator (CFTR) mutation carriers, and 100 age-matched healthy controls. Both hands were immersed in tap water (22-24°C) for 11 minutes and assessed at 3, 7, and 11 minutes. Transepidermal water loss (TEWL) was measured after immersion using a portable VapoMeter. Early AWP at three minutes occurred in 68/100 (68%) CF patients, 4/50 (8%) CFTR heterozygous carriers, and 0/100 (0%) controls (p < 0.01); at the three-year follow-up, 35/50 (70%) CF patients again showed early wrinkling. Wrinkling with papule formation at seven minutes provided optimal discrimination (94% sensitivity, 98.3% specificity). A TEWL threshold ≥ 203 g/m²/h further differentiated CF from non-CF participants (86% sensitivity, 98% specificity). The BIW test is rapid, reproducible, and feasible in resource-limited settings; thus, a positive seven-minute response should prompt confirmatory testing (e.g., sweat chloride and/or CFTR genotyping).
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