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我们关于先天性皮肤发育不全的经验。

Our experience with aplasia cutis congenita.

作者信息

Caksen Hüseyin, Kurtoglu Selim

机构信息

Department of Pediatrics, Yüzüncü Yil University Faculty of Medicine, Van, Turkey.

出版信息

J Dermatol. 2002 Jun;29(6):376-9. doi: 10.1111/j.1346-8138.2002.tb00285.x.

Abstract

Aplasia cutis congenita is a rare disorder characterized by developmental absence of skin on the scalp as multiple or solitary, noninflammatory, well demarcated, oval or circular 1- to 2-cm ulcers. The disease may be isolated or associated with anomalies of the skin, eyes, ear-nose-neck and limbs, developmental defects of the cardiovascular, gastrointestinal, genitourinary and central nervous systems, and malformation syndromes such as chromosomal abnormalities, Adams-Oliver syndrome, Bart's syndrome, and Johanson-Bilzzard syndrome. In this article, five newborn infants with aplasia cutis congenita (one associated with Adams-Oliver syndrome and another concomitant with Bart's syndrome) are reported because of their rare presentation in the literature.

摘要

先天性皮肤发育不全是一种罕见的疾病,其特征为头皮上出现多个或单个、非炎症性、边界清晰的椭圆形或圆形1至2厘米溃疡,皮肤呈发育性缺失。该疾病可能是孤立性的,也可能与皮肤、眼睛、耳-鼻-颈部及四肢的异常、心血管、胃肠道、泌尿生殖系统和中枢神经系统的发育缺陷以及诸如染色体异常、亚当斯-奥利弗综合征、巴特综合征和约翰森-比兹扎德综合征等畸形综合征相关。在本文中,报告了五例先天性皮肤发育不全的新生儿(一例与亚当斯-奥利弗综合征相关,另一例合并巴特综合征),因为它们在文献中的表现罕见。

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