Unlabelled: 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.
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| http://dx.doi.org/10.1097/MS9.0000000000000240 | DOI Listing |
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