罕见先天性鱼鳞病合并羊膜带综合征的急诊治疗。

IF 0.8 4区 医学 Q4 EMERGENCY MEDICINE
İlker Uyar, Sibel Burçak Sahin Uyar
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引用次数: 0

摘要

鱼鳞病是由孟德尔角化症引起的。遗传性鱼鳞病分为非综合征性鱼鳞病和综合征性鱼鳞病。羊膜带综合征包括先天性异常,最常引起手和腿环。绑带可以包裹正在发育的身体部位。在这项研究中,目的是提出一个紧急途径羊膜带综合征合并先天性鱼鳞病的情况下。新生儿重症监护病房要求我们就一个1天大的男婴的病例进行咨询。体格检查发现双手先天性带状带,脚趾发育不全,全身皮肤有鳞屑,皮肤粘稠度较硬。右睾丸不在阴囊内。其他系统检查正常。然而,在远端手指的血液循环已经变得至关重要。在镇静的帮助下,手指上的带子被切除,手术后,观察到手指的循环比手术前更放松。先天性鱼鳞病和羊膜带并存是非常罕见的。急诊入路对于挽救肢体和防止肢体发育迟缓非常重要。随着产前诊断方面的进一步发展,这些病例将能够通过早期诊断和治疗来预防。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.

Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.

Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.

Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.

Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.

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来源期刊
CiteScore
1.40
自引率
18.20%
发文量
82
审稿时长
4-8 weeks
期刊介绍: The Turkish Journal of Trauma and Emergency Surgery (TJTES) is an official publication of the Turkish Association of Trauma and Emergency Surgery. It is a double-blind and peer-reviewed periodical that considers for publication clinical and experimental studies, case reports, technical contributions, and letters to the editor. Scope of the journal covers the trauma and emergency surgery. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in their fields in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent reviewer to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions.
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