Hypohidrotic ectodermal dysplasia: a case report

Abstract

Introduction and importance: 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. Case presentation: 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. Clinical discussion: 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. Conclusion: This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality.

Detection of an EDA mutation causing hypohidrotic ectodermal dysplasia in a Vietnamese patient

“…Hypohidrotic ectodermal dysplasia (HED) is the most prevalent form of a syndrome called ectodermal dysplasia (Deshmukh, Prashanth, 2012). The estimated prevalence of HED is 1-9 in 100,000 individuals and 1 in 5,000-10,000 newborns (Albeik et al, 2023). This disease is characterized by the abnormal development of ectoderm-derived organs, including the absence of sweat glands (anhidrosis or hypohidrosis), scant hair (hypotrichosis), and atypical or absent teeth (anodontia or hypodontia) (Cluzeau et al, 2011;Albeik et al, 2023).…”

“…The estimated prevalence of HED is 1-9 in 100,000 individuals and 1 in 5,000-10,000 newborns (Albeik et al, 2023). This disease is characterized by the abnormal development of ectoderm-derived organs, including the absence of sweat glands (anhidrosis or hypohidrosis), scant hair (hypotrichosis), and atypical or absent teeth (anodontia or hypodontia) (Cluzeau et al, 2011;Albeik et al, 2023). HED can be caused by mutations in several genes, which include ectodysplasin A (EDA), ectodysplasin A receptor (EDAR), ectodysplasin A receptor-associated death domain (EDARADD), WNT10A, TRAF6, NEMO, and IKBKG (Nguyen et al, 2021).…”