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一名青少年男性以中暑表现的外胚层发育不良

Ectodermal Dysplasia Presenting as Heat Exhaustion in an Adolescent Boy.

作者信息

Guntreddi Giridhar, Vasudevan Nair Jayasree, Nirujogi Swayam P

机构信息

Pediatrics, SANFORD Medical Center, Bemidji, USA.

Pediatrics, Sutter Health, Jackson, USA.

出版信息

Cureus. 2021 Feb 20;13(2):e13450. doi: 10.7759/cureus.13450.

Abstract

Ectodermal dysplasia (ED) is a rare heterogenous group of ectodermal disorder, which primarily affects skin, hair, nails, eccrine glands, and teeth. Hypohidrotic ED is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital decrease in the number of teeth /anodontia - complete absence of teeth). Primary care physicians and dentists play a crucial role in the early diagnosis and subsequent follow ups. A careful and thorough examination of these patients will lead to accurate diagnosis. Timely involvement of a multidisciplinary team in their care including the child psychologist, dermatologist, otorhinolaryngologist, and speech therapist would avoid fatal complications and improve the overall quality of life.  In this article, we report that ED is a chronic underdiagnosed condition and can have devastating long-term complications. This is significant because with early diagnosis and prompt education of parents, patients can have better outcome in the prevention and timely management of complications such as heat exhaustion, electrolyte imbalance, heat stroke, and severe dehydration. Our case report would help clinicians familiarize with this rare condition to improve clinical acumen and better the patient outcome.

摘要

外胚层发育不良(ED)是一组罕见的异质性外胚层疾病,主要影响皮肤、毛发、指甲、小汗腺和牙齿。少汗型外胚层发育不良的特征是毛发稀少(头皮和身体毛发稀疏)、少汗(出汗能力降低)和牙齿发育不全(牙齿数量先天性减少/无牙症——完全没有牙齿)。初级保健医生和牙医在早期诊断及后续随访中起着关键作用。对这些患者进行仔细全面的检查将有助于准确诊断。及时让多学科团队参与其护理,包括儿童心理学家、皮肤科医生、耳鼻喉科医生和言语治疗师,将避免致命并发症并提高整体生活质量。在本文中,我们报告外胚层发育不良是一种长期未被诊断的慢性疾病,可能会产生严重的长期并发症。这很重要,因为通过早期诊断并及时对家长进行教育,患者在预防和及时处理诸如热衰竭、电解质失衡、中暑和严重脱水等并发症方面可以有更好的结果。我们的病例报告将有助于临床医生熟悉这种罕见疾病,提高临床敏锐度并改善患者预后。

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