Aquagenic wrinkling of the palms and the potential role for genetic testing.

Aquagenic wrinkling of the palms (AWP) is a condition characterized by excessive wrinkling, palmar edema, and whitish papules accompanied by pain, pruritus, or discomfort after brief immersion of the hands in water. It is well documented to be associated with cystic fibrosis (CF), with several theories regarding the pathogenesis having been proposed. We report a case of two sisters with AWP in whom CF has not been diagnosed and review the literature on AWP and its association with CF and CF carrier status. Because diagnosis of mild forms CF or knowledge of an underlying CF genetic mutation is frequently unknown, identification of AWP may represent the only sign of such mutations. The dermatologist plays an integral role in early detection of AWP, and the importance of genetic testing in such patients cannot be overlooked. We recommend various measures to apply in clinical practice to ensure diagnosis and decrease morbidity and mortality in patients.