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角膜炎、鱼鳞病和耳聋(KID)综合征

The keratitis, ichthyosis, and deafness (KID) syndrome.

作者信息

Skinner B A, Greist M C, Norins A L

出版信息

Arch Dermatol. 1981 May;117(5):285-9.

PMID:7224657
Abstract

We describe here a patient with ichthyosis, keratitis, deafness, and recalcitrant cutaneous bacterial and fungal infections, who was previously described as having hereditary hypohidrotic ectodermal dysplasia. Similarly affected patients described in the literature have the following features in common: (1) a distinctive ichthyosis characterized by a fine dry scale, follicular hyperkeratotic spines, and a reticulated pattern of hyperkeratosis on the palms and soles; (2) a vascularizing keratitis that results in notable visual impairment; and (3) neurosensory deafness. One half of the affected patients also display frequent, severe cutaneous infections. We suggest that the name "the KID syndrome" to emphasize the characteristic features of the syndrome-keratitis, ichthyosis, and deafness.

摘要

我们在此描述一名患有鱼鳞病、角膜炎、耳聋以及顽固性皮肤细菌和真菌感染的患者,该患者之前被描述为患有遗传性少汗性外胚层发育不良。文献中描述的类似受影响患者具有以下共同特征:(1)一种独特的鱼鳞病,其特征为细小干燥鳞屑、毛囊性角化过度棘刺以及手掌和脚底的网状角化过度模式;(2)导致明显视力损害的血管化角膜炎;以及(3)神经感觉性耳聋。一半的受影响患者还频繁出现严重的皮肤感染。我们建议使用“KID综合征”这一名称来强调该综合征的特征——角膜炎、鱼鳞病和耳聋。

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