Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy

Abstract

Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are associated with cystic fibrosis (CF) patients and up to 25% with CF carriers. We present the case of a 16-year-old male who complains of new-onset symmetrical edematous wrinkling on his palms associated with brief water exposure. After evaluation and genetic testing, the patient was diagnosed with CF and AWP. While there are numerous theories regarding the pathogenesis of AWP, no consensus has been reached regarding its etiology or relationship with CF. However, given the high prevalence of AWP associated with the genetic disease, physicians should have a high index of suspicion of CF or cystic fibrosis transmembrane regulator (CFTR)-related disease in pediatric patients with this presentation. The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants. Prompt recognition of CF disease leads to timely initiation of CFTR-modulating therapy, improving the patient's health outcomes and quality of life. In this case, we also present the patient's response to CFTR-modulating therapy and compare with baseline status.

Keywords: aquagenic palmoplantar keratoderma; aquagenic wrinkling of palms; cftr modulating therapy; cftr mutation; cystic fibrosis; genetic screening; skin wrinkling.