Ectodermal Dysplasia with an Autosomal Recessive Inheritance Pattern – A Rare Case Report with a Brief Literature Review

Abstract

Ectodermal dysplasia (ED) refers to a rare genetic disease chiefly affecting the ectodermal tissue derivatives. Hypohidrotic and hidrotic ED (HED) are the major clinically delineated forms of ED. Hypohidrotic form is the commonly occurring type. The condition manifests as a triad of hypotrichosis, hypohidrosis, and hypodontia, and generally exhibits an X-linked trait. Very rarely, it manifests as an autosomal recessive inheritance pattern. Multidisciplinary treatment protocol necessitates teamwork by medical professionals along with dentists. Dental management at the initial stage can ameliorate the patient's esthetics, thus, abating the allied emotional and mental health issues in such patients. The purpose of this manuscript is to report an extremely rare case of ED in a young female patient who reported to us with a complaint of multiple missing teeth and spacing in teeth. The patient manifested salient features of HED after thorough history taking and a detailed physical examination. Our case was an unusual occurrence where the proband exhibited an autosomal recessive inheritance pattern.