Aquagenic wrinkling of the palms in cystic fibrosis: comparison with controls and genotype-phenotype correlations.
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.


METHODS
Blinded comparison.


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


METHODS
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 DeltaF508 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 DeltaF508 mutation (n = 27) had significantly higher scores than patients with CF who were not homozygous for the DeltaF508 mutation (n = 17) (1.7 vs 1.1; P = .02). The 17 patients with CF who were not homozygous for the DeltaF508 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 DeltaF508 mutation.
Berk
David R
DR
Department of Internal Medicine and Pediatrics, Division of Dermatology, Washington University School of Medicine and St Louis Children's Hospital, Campus Box 8123, 4921 Parkview Place, St Louis, MO 63110, USA. dberk@dom.wust.edu
Ciliberto
Heather M
HM
Sweet
Stuart C
SC
Ferkol
Thomas W
TW
Bayliss
Susan J
SJ
D017677:Age Distribution; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D016001:Confidence Intervals; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D005838:Genotype; D006225:Hand; D006801:Humans; D015994:Incidence; D008297:Male; D010641:Phenotype; D011336:Probability; D012016:Reference Values; D012720:Severity of Illness Index; D017678:Sex Distribution; D015595:Skin Aging / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator