Related Experiment Video
Updated: Jan 28, 2026
Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
Published on: June 10, 2022
Aquagenic Wrinkling of Skin: A Screening Test for Cystic Fibrosis
Anuj Singh1, Rakesh Lodha1, Shivaram Shastri1
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Insights
Aquagenic wrinkling, a rapid skin response to water, can help screen for cystic fibrosis (CF) in children. Children with CF developed wrinkling in 3 minutes, suggesting its utility as a preliminary diagnostic tool.
Area of Science:
- Pediatric diagnostics
- Dermatology
- Genetic disorders
Background:
- Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
- Early diagnosis of CF is crucial for effective management and improved outcomes.
- Current diagnostic methods like sweat tests may not be universally accessible.
Purpose of the Study:
- To evaluate the effectiveness of aquagenic wrinkling as a simple screening test for cystic fibrosis in children.
- To determine the optimal time threshold for aquagenic wrinkling to identify potential CF cases.
Main Methods:
- The study involved three groups: children with CF, carriers, and healthy controls.
- Aquagenic wrinkling was induced by immersing a hand in water, with time to wrinkling recorded.
- Receiver operating characteristic (ROC) curve analysis was used to determine the optimal cut-off time.
Main Results:
- Children with CF showed significantly faster aquagenic wrinkling (median 2 minutes) compared to carriers (4 minutes) and controls (8 minutes).
- A 3-minute cut-off for aquagenic wrinkling demonstrated 81% sensitivity and 57% specificity for identifying CF.
- In a subset referred for sweat testing, the 3-minute criterion correctly identified 75% of confirmed CF cases.
Conclusions:
- Aquagenic wrinkling is a potentially useful, rapid screening test for cystic fibrosis in pediatric populations.
- A 3-minute threshold for aquagenic wrinkling can aid in identifying children who require further CF diagnostic evaluation.
- This test may be particularly valuable in resource-limited settings lacking access to sweat testing.
Objective:
To study the utility of aquagenic wrinkling as screening test for children with cystic fibrosis.
Design:
Evaluation of diagnostic test.
Setting:
Pediatric Chest Clinic, and Pediatric Wards of a tertiary care hospital in New Delhi.
Participants:
Three groups (children with cystic fibrosis, carriers of cystic fibrosis, and controls).
Methods:
Time taken to develop aquagenic wrinkling was measured. The test was performed by asking the enrolled subject to put their one hand in water and was checked for development of wrinkling every minute, and a photograph was also taken every minute.
Results:
A total of 64 children with cystic fibrosis, 64 controls and 64 carriers were enrolled in the study. Median (IQR) time to develop aquagenic wrinkling in the three groups was 2 (2.5,3) minutes, 4 (3,5) minutes and 8 (5,11) minutes, respectively. The optimal cut-off was calculated as 3 minutes by Receiver operating characteristic curve with a sensitivity and specificity for identification of children with cystic fibrosis as 81% and 57%, respectively. The area under curve was 76.5%. The 3 minute cut-off for development of aquagenic wrinkling was applied to 54 children referred for sweat test. 20 children had sweat chloride values of ≥60 mEq/l and diagnosed as cystic fibrosis. 15 of these developed aquagenic wrinkling at ≤3 minutes, giving a sensitivity of 75%.
Conclusions:
In places with no facility for sweat test, children with phenotype compatible with cystic fibrosis who develop aquagenic wrinkling in 3 minutes may be diagnosed as probable cystic fibrosis and referred for confirmation by sweat test.
More Related Videos
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
01:24Cystic Fibrosis: Management
Sinus disease and chronic...
01:30Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
01:16Sensory Functions of the Skin
There are two main categories of receptors on the skin: capsulated and non-capsulated. The non-capsulated ones are mainly the pain receptors. The capsulated ones can be further categorized based on the...
01:23Skin Diseases and Disorders
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...