Hypohydrotic ectodermal dysplasia: A rare case series

Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The sweating is greatly deficient, leading to epi...

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Bibliographic Details
Main Authors: Manisha Goyal (Author), Ashok Gupta (Author), Priyanshu Mathur (Author), Manish Sharma (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2018-01-01T00:00:00Z.
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Summary:Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The sweating is greatly deficient, leading to episodes of hyperthermia. It is inherited as, X-linked form (caused by mutations in EDA gene), autosomal recessive and autosomal dominant form (caused by mutations in EDAR and EDARADD). We are describing three cases of HED and discussing their diagnostic and therapeutic approach.
Item Description:2349-6592
2455-7099
10.21304/2018.0501.00362