Aquagenic wrinkling of the palms in patients with cystic fibrosis homozygous for the delta F508 CFTR mutation.
BACKGROUND
Aquagenic wrinkling of the palms (AWP) is a rare condition characterized by the rapid and transient formation of edematous whitish plaques on the palms on exposure to water (the so-called hand-in-the-bucket sign). The changes may be asymptomatic or accompanied by pruritic or burning sensations. First described in 1974 in patients with cystic fibrosis--and still primarily reported in these patients--this condition has been previously described only in females. Specific mutations in CFTR, the gene responsible for cystic fibrosis, have not been reported previously in patients with AWP.


METHODS
We describe 2 patients with AWP, both of whom are homozygous for the delta F508 mutation in CFTR: a 17-year-old boy--the first male reported to have this condition--who has had AWP for 3 years and a 13-year-old girl who has had AWP for 6 months.


CONCLUSIONS
Cystic fibrosis should be considered in patients with AWP, and patients with cystic fibrosis should be asked about symptoms of this condition. Although the etiology of AWP is unknown, the association with cystic fibrosis, and with marasmus and cyclooxygenase-2 inhibitors, suggests that exposure of the skin to abnormally high concentrations of salt may play a role in its pathogenesis.
Katz
Kenneth A
KA
Department of Dermatology, University of Pennsylvania, Philadelphia 19104, USA. Kenneth.katz@uphs.upenn.edu
Yan
Albert C
AC
Turner
Maria L
ML
D000293:Adolescent; D003550:Cystic Fibrosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007101:Immersion; D008297:Male; D009154:Mutation; D010146:Pain / Q000209:etiology; D012867:Skin / Q000473:pathology; D015595:Skin Aging; D014867:Water
C505032:CFTR protein, human; D014867:Water; D019005:Cystic Fibrosis Transmembrane Conductance Regulator