A case of hypohidrotic ectodermal dysplasia
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Updated: Oct 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
1Department of Dermatology, College of Medicine, Soonchunhyang University, Seoul, Korea.
Abstract:
Hypohidrotic ectodermal dysplasia (HED) is a rare, hereditary, congenital disease that affects several ectodermal structures. It is characterised by the following: anhidrosis or hypohidrosis, dental abnormalities, hypotrichosis, and a characteristic facies. The face shows prominent frontal bosses, supraorbital ridges and depressed bridges. We experienced a case of hypohidrotic ectodermal dysplasia in a 43-year-old male who had four characteristic features. A skin biopsy from the palm showed a total absence of the eccrine glands. The diagnosis was made on the basis of clinical features and skin biopsy findings.
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