一种在新生儿中引起水泡的罕见而致命的原因

Inês Rua, Marta Vidal, J. Calvão, Rui Castelo, Leonor Ramos
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引用次数: 0

摘要

由于多种原因,包括感染、先天性或遗传性疾病,新生儿可能出现水疱和糜烂。在这个报告中,我们描述了一个男性新生儿谁提出了脓疱病变在生命的第一天,并逐渐发展成水疱和糜烂。由于疾病进展,即使静脉抗生素治疗后怀疑大疱性脓疱疮,其他诊断必须考虑和多学科的方法,支持皮肤科是必要的。皮肤活检和遗传学研究,允许明确诊断大疱性表皮松解症,一组罕见的遗传性大疱性疾病。由于缺乏根治性治疗,进行了支持治疗,但未能防止患者在2个月时死亡。因此,儿科医生必须尽早识别这一实体,以改善预后
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare and fatal cause of blisters in a newborn
Newborns may develop blisters and erosions due to multiple entities, including infections, congenital or hereditary diseases. In this report we describe a male newborn who presented with pustular lesions on the first day of life and progressively developed blisters and erosions. Due to disease progression even with intravenous antibiotic therapy after suspicion of bullous impetigo, other diagnoses had to be considered and a multidisciplinary approach with the support of dermatology was necessary. A skin biopsy and genetic study were performed, which allowed the definitive diagnosis of Epidermolysis Bullosa, a group of rare hereditary bullous diseases. Because of the absence of curative therapy, supportive treatment was performed, which did not prevent the patients death at 2 months of life. It is therefore essential for pediatricians to identify this entity as early as possible in order to improve the prognosis
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