Ectodermal Dysplasia Presenting as Heat Exhaustion in an Adolescent Boy.

Autor: Guntreddi G; Pediatrics, SANFORD Medical Center, Bemidji, USA., Vasudevan Nair J; Pediatrics, Sutter Health, Jackson, USA., Nirujogi SP; Family Medicine, Tower Health Medical Group, Reading, USA.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2021 Feb 20; Vol. 13 (2), pp. e13450. Date of Electronic Publication: 2021 Feb 20.
DOI: 10.7759/cureus.13450
Abstrakt: 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.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2021, Guntreddi et al.)
Databáze: MEDLINE