囊性纤维化
皮肤病科
棕榈
医学
杂合子丢失
复合杂合度
家族史
病理
突变
内科学
生物
遗传学
等位基因
基因
量子力学
物理
作者
Elaine Dupuis,Arissa J. Sperou,Loretta Fiorillo
摘要
Conflicts of interest: none declared. Dear Editor, Within 2 min of water immersion, this patient developed characteristic changes of aquagenic wrinkling of the palms (AWP). A rare dermatosis, AWP is distinguished by the transient appearance of white oedematous papules and plaques amid excessive wrinkling of volar skin within minutes of water exposure. It is common in cystic fibrosis (CF),1 and is reported in 9–25% of CF carriers.2 Despite having an unremarkable family history, our patient carried the often associated delta F508 mutation in CFTR. Although not validated, the timing to symptom onset may distinguish carrier status. Given the associations, CF screening and genetic testing should be considered for all patients with AWP.
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