Hypohidrotic ectodermal dysplasia- A case series demonstrating indistinguishable phenotypes produced by autosomal recessive and x-linked forms

Authors : Sushitha Votturu, Swarna Kumar Matavalum, Vijaya Mohan Rao Avisa, Navyatha Chamarthi, Pavan Kumar Reddy Gurijala

DOI : 10.18231/j.ijced.2022.015

Volume : 8

Issue : 1

Year : 2022

Page No : 64-66

Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type of ED. HED is usually an X-linked recessive (XLR) disorder affecting predominantly males. However, Autosomal recessive (AR) and Autosomal dominant (AD) forms have been described in rare cases. Here, we report three cases of HED showing different patterns of inheritance with similar phenotypes; one with a classic X-linked inheritance and the other two include female siblings with an Autosomal recessive inheritance.
 

Keywords: Hypohidrotic ectodermal dysplasia, X­linked, Autosomal recessive

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