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Comparison With Controls and Genotype-Phenotype Correlations

David R. Berk, MD; Heather M. Ciliberto, MD; Stuart C. Sweet, MD; Thomas W. Ferkol, MD; Susan J. Bayliss, MD

Arch Dermatol. 2009;145(11):1296-1299.

Objective  To determine the prevalence of aquagenic wrinkling of the palms (AWP) in patients with cystic fibrosis (CF) compared with control patients, and evaluate for genotype-phenotype correlations. Since its first description over 30 years ago, AWP has frequently been anecdotally associated with CF, but this association has not been confirmed in a rigorous prospective case-control study.

Design  Blinded comparison.

Setting  The CF and dermatology clinics at St Louis Children's Hospital.

Participants  Forty-four individuals with CF from a CF clinic and 26 controls from a dermatology clinic.

Intervention  Participants were tested for AWP using 3 minutes of water immersion with room-temperature tap water.

Main Outcome Measure  The degree of AWP was scored from 0 (no wrinkling) to 4 (severe wrinkling) by 3 blinded physicians. For genotype-phenotype correlations, patients with CF were divided into those homozygous for the F508 mutation and those with other genotypes.

Results  The mean AWP score of the CF group was significantly higher than the mean score of the control group (1.5 vs 0.6; P < .001). Patients with CF who were homozygous for the F508 mutation (n = 27) had significantly higher scores than patients with CF who were not homozygous for the F508 mutation (n = 17) (1.7 vs 1.1; P = .02). The 17 patients with CF who were not homozygous for the F508 mutation still had higher scores than the control group (1.1 vs 0.6; P = .03). There was no correlation between sweat chloride concentrations measured at the time of diagnosis and AWP score.

Conclusions  Our results confirm the association between AWP and CF. Among patients with CF, greater AWP occurs in those who are homozygous for the F508 mutation.

Author Affiliations: Department of Dermatology, Stanford University School of Medicine, Stanford, California (Dr Berk); and Departments of Internal Medicine and Pediatrics, Division of Dermatology (Drs Ciliberto and Bayliss) and Division of Allergy, Immunology, and Pulmonary Medicine (Drs Sweet and Ferkol), Washington University School of Medicine and St Louis Children's Hospital, St Louis, Missouri. Dr Berk is now with the Department of Internal Medicine and Pediatrics, Division of Dermatology, Washington University School of Medicine and St Louis Children’s Hospital.

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