Hypohidrotic ectodermal dysplasia: a case report.
X-linked
hyperpyrexia
hypodontia
hypotrichosis
sparse hair
Journal
Annals of medicine and surgery (2012)
ISSN: 2049-0801
Titre abrégé: Ann Med Surg (Lond)
Pays: England
ID NLM: 101616869
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
08
11
2022
accepted:
24
12
2022
entrez:
16
3
2023
pubmed:
17
3
2023
medline:
17
3
2023
Statut:
epublish
Résumé
Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000-10,000 newborns. This disorder has a wide range of clinical manifestations; it affects organs originating from the embryonic ectoderm. We present a case of a 2-year-old boy diagnosed with HED, the boy was suffering from absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, sparse and light-colored hair on the scalp, absent eyebrows, and delayed eruption of abnormally shaped teeth. The are no diagnostic criteria guidelines for HED, we diagnosed the disorder by the clinical manifestations and the family history. The management of patients with HED is palliative. This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality.
Identifiants
pubmed: 36923780
doi: 10.1097/MS9.0000000000000240
pmc: PMC10010819
doi:
Types de publication
Case Reports
Langues
eng
Pagination
519-522Informations de copyright
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
There are no conflicts of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article.
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