一名囊性纤维化携带者出现的掌部水致性皱纹。

Aquagenic wrinkling of the palms in a cystic fibrosis carrier.

作者信息

Gild Rochelle, Clay Christopher D

机构信息

Royal Perth Hospital, Perth, WA, Australia.

出版信息

Australas J Dermatol. 2008 Feb;49(1):19-20. doi: 10.1111/j.1440-0960.2007.00412.x.

DOI:10.1111/j.1440-0960.2007.00412.x

PMID:18186841

Abstract

A 16-year-old girl presented with a 3-year history of painful swelling and wrinkling of her palms on exposure to water. Physical examination, after less than 2 min of immersion, showed thickening and exaggerated wrinkling of the palms giving a whitish pebbly appearance. Aquagenic wrinkling of the palms was diagnosed. The patient was tested for the common cystic fibrosis mutations, and was found to be heterozygous for the arg117His cystic fibrosis mutation. Her sweat test was normal.

摘要

一名16岁女孩有3年病史，手掌接触水后会出现疼痛性肿胀和起皱。体格检查发现，浸泡不到2分钟后，手掌增厚且出现过度起皱，呈现出白色卵石样外观。诊断为掌部水致性皱纹。对该患者进行了常见囊性纤维化突变检测，发现其为精氨酸117组氨酸囊性纤维化突变的杂合子。她的汗液试验结果正常。