Park Ligaya, Khani Cherise, Tamburro Joan
University Hospitals Case Medical Center, Cleveland, Ohio, USA.
Pediatr Dermatol. 2012 May-Jun;29(3):237-42. doi: 10.1111/j.1525-1470.2011.01609.x. Epub 2011 Nov 2.
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.
掌部水致性皱纹（AWP）是一种病症，其特征为手部短暂浸入水中后出现过度皱纹、掌部水肿和白色丘疹，并伴有疼痛、瘙痒或不适。有充分文献记载其与囊性纤维化（CF）相关，关于其发病机制已提出多种理论。我们报告了一例患有AWP的姐妹病例，她们尚未被诊断出患有CF，并回顾了关于AWP及其与CF和CF携带者状态关联的文献。由于轻度CF的诊断或潜在CF基因突变的情况常常未知，AWP的识别可能是此类突变的唯一迹象。皮肤科医生在AWP的早期检测中起着不可或缺的作用，对此类患者进行基因检测的重要性不可忽视。我们推荐在临床实践中应用的各种措施，以确保诊断并降低患者的发病率和死亡率。
