Abstract
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 (1.5,3) 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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Dodge JA, Morison S, Lewis PA, Coles EC, Geddes D, Russell G, et al, UK Cystic Fibrosis Survey Management Committee. Incidence, population, and survival of cystic fibrosis in the UK, 1968–95. Arch Dis Child. 1997;77:493–6.
Ahuja AS, Kabra SK. Cystic fibrosis: Indian experience. Indian Pediatr. 2002;39:813–8.
Kabra SK, Kabra M, Lodha R, Shastri S. Cystic fibrosis in India. Pediatr Pulmonol. 2007;42:1087–94.
Powers CA, Potter EM, Wessel HU, Lloyd-Still JD. Cystic fibrosis in Asian Indians. Arch Pediatr Adolesc Med. 1996;150:554–5.
Goodchild MC, Insley J, Rushton DI, Gaze H. Cystic fibrosis in 3 Pakistani children. Arch Dis Child. 1974;49:739–41.
Spencer DA, Venkataraman M, Higgins S, Stevenson K, Weller PH. Cystic fibrosis in children from ethnic minorities in the West Midlands. Respir Med. 1994;88:671–5.
Kapoor V, Shastri SS, Kabra M, Kabra SK, Ramachandran V, Arora S, et al. Carrier frequency of F508 del mutation of cystic fibrosis in Indian population. J Cyst Fibros Off J Eur Cyst Fibros Soc. 2006;5:43–6.
Kabra M, Kabra SK, Ghosh M, Khanna A, Arora S, Menon PS, et al. Is the spectrum of mutations in Indian patients with cystic fibrosis different? Am J Med Genet. 2000;93:161–3.
Berk DR, Ciliberto HM, Sweet SC, Ferkol TW, Bayliss SJ. Aquagenic wrinkling of the palms in cystic fibrosis: Comparison with controls and genotype-phenotype correlations. Arch Dermatol. 2009;145:1296–9.
Gild R, Clay Cd, Morey S. Aquagenic wrinkling of the palms in cystic fibrosis and the cystic fibrosis carrier state: a case-control study. Br J Dermatol. 2010;163:1082–4.
Arkin LM, Flory JH, Shin DB, Gelfand JM, Treat JR, Allen J, et al. High prevalence of aquagenic wrinkling of the palms in patients with cystic fibrosis and association with measurable increases in transepidermal water loss. Pediatr Dermatol. 2012;29:560–6.
Chinazzo C, Alessandri AD, Menoni S, Romanisio G, Rebora A, Rongioletti F. Aquagenic wrinkling of the palms and cystic fibrosis: An Italian study with controls and genotype-phenotype correlations. Dermatology. 2014;228:60–5.
Elliott RB. Wrinkling of skin in cystic fibrosis. Lancet. 1974;2:108.
Katz KA, Yan AC, Turner ML. Aquagenic wrinkling of the palms in patients with cystic fibrosis homozygous for the delta F508 CFTR mutation. Arch Dermatol. 2005;141: 621–4.
Arniges M, Vázquez E, Fernández-Fernández JM, Valverde MA. Swelling-activated Ca2+ entry via TRPV4 channel is defective in cystic fibrosis airway epithelia. J Biol Chem. 2004;279:54062–8.
Garçon-Michel N, Roguedas-Contios A-M, Rault G, Le Bihan J, Ramel S, Revert K, et al. Frequency of aquagenic palmoplantar keratoderma in cystic fibrosis: a new sign of cystic fibrosis? Br J Dermatol. 2010;163:162–6.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Singh, A., Lodha, R., Shastri, S. et al. Aquagenic Wrinkling of Skin: A Screening Test for Cystic Fibrosis. Indian Pediatr 56, 109–113 (2019). https://doi.org/10.1007/s13312-019-1481-y
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-019-1481-y