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幼儿面部擦伤综合征(MiTES):一种新的儿科诊断。

Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis.

作者信息

Srinivas S M, Gowda V K, Owen C M, Moss C, Hiremagalore R

机构信息

Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

出版信息

Clin Exp Dermatol. 2017 Jan;42(1):68-71. doi: 10.1111/ced.12997.

Abstract

Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse. Recognition of the same disease pattern in different continents implies a distinct pathological entity. The pattern closely resembles that seen in some patients with mutations in the pain-insensitivity genes PRDM12 and SCN11A. We suggest the term 'mid-face toddler excoriation syndrome' (MiTES) to acknowledge the existence of this condition, encourage further reports and help clarify the pathogenesis.

摘要

幼儿面部慢性溃疡性病变较为罕见。水疱性疾病、血管炎、感染以及神经代谢疾病导致的自残行为通常可基于临床和组织学依据排除。在没有可识别疾病的情况下,此类病变有时被归因于虐待儿童或虚构疾病。我们描述了三名患有面部中部慢性糜烂的幼儿,两名来自印度,一名来自英国。其中一名有中度发育迟缓,一名曾有癫痫发作。这些病变似乎是自我造成的,未发现潜在疾病,也没有虐待儿童的嫌疑。在不同大陆识别出相同的疾病模式意味着存在一种独特的病理实体。这种模式与一些疼痛不敏感基因PRDM12和SCN11A发生突变的患者所见模式极为相似。我们建议使用“面部中部幼儿擦伤综合征”(MiTES)这一术语来承认这种病症的存在,鼓励进一步报告并有助于阐明其发病机制。

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