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遗传性感觉和常染色体隐性遗传性周围神经病IV型:病例系列及文献综述

Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature.

作者信息

Ashwin D P, Chandan G D, Jasleen Handa Kaur, Rajkumar G C, Rudresh K B, Prashanth R

机构信息

Department of Oral and Maxillofacial Surgery, Vokkaligara Sanga Dental College and Hospital, Bangalore, India.

出版信息

Oral Maxillofac Surg. 2015 Jun;19(2):117-23. doi: 10.1007/s10006-015-0486-5. Epub 2015 Mar 6.

Abstract

Hereditary sensory and autonomic neuropathy (HSAN) IV is a rare autosomal recessive disorder which is characterized by a decrease in the number of myelinated and non-myelinated nerve fibers of peripheral nerves which causes diminished or absent pain sensation leading to increase in self-mutilative habits. A retrospective study of eight cases ranging from age group of 4 to 17 years for oral and digital signs and symptoms is presented. All the patients showed congenital insensitivity to pain and anhidrosis. Oral self-mutilations, such as autoextraction of teeth and severe bite injuries (with resultant scarring) of the finger tips and oral soft tissues (tongue, lip, and buccal mucosa) were found in most patients. Our study suggests that early diagnosis and specific treatment plan are important for prevention of characteristic of the oral as well as digital trauma associated with this disorder.

摘要

遗传性感觉和自主神经病变(HSAN)IV是一种罕见的常染色体隐性疾病,其特征是周围神经中髓鞘化和非髓鞘化神经纤维数量减少,导致痛觉减退或缺失,从而使自残习惯增加。本文呈现了一项对8例年龄在4至17岁之间患者的口腔和手指体征及症状的回顾性研究。所有患者均表现出先天性痛觉缺失和无汗症。大多数患者存在口腔自残行为,如自行拔牙以及指尖和口腔软组织(舌头、嘴唇和颊黏膜)严重咬伤(导致瘢痕形成)。我们的研究表明,早期诊断和制定具体的治疗方案对于预防与该疾病相关的口腔及手指创伤特征非常重要。

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