Open AccessHypohidrotic ectodermal dysplasia- A case series demonstrating indistinguishable phenotypes produced by autosomal recessive and x-linked forms
Author(s) -
Sushitha Votturu,
Swarna Kumar Matavalum,
Vijaya Mohan Rao Avisa,
Navyatha Chamarthi,
Pavan Kumar Reddy Gurijala
Publication year - 2022
Publication title -
ip indian journal of clinical and experimental dermatology
Language(s) - English
Resource type - Journals
eISSN - 2581-4710
pISSN - 2581-4729
DOI - 10.18231/j.ijced.2022.015
Subject(s) - hypohidrotic ectodermal dysplasia , autosomal recessive inheritance , ectodermal dysplasia , x linked recessive inheritance , phenotype , hypotrichosis , genetics , inheritance (genetic algorithm) , biology , dermatology , medicine , x chromosome , gene
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.