Ectodermal dysplasia: Report of two cases in a family and literature review.

Chappidi, Vani; Voulligonda, Dheeraj; Bhogavaram, Bharadwaj; Reddy, P Krishnanjaneya · J Family Med Prim Care · 2019

case_report · Level V

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Abstract

Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth. There are more than 150 different variants of ED described in literature. The condition is thought to occur in approximately 1 in every 100,000 live births. It mainly manifests in two types i.e. Hypohidrotic (Anhidrotic) type and Hydrotic type depending on degree of sweat gland function. This report presents two cases within a family, a 4 year old boy and a 6 year old girl with typical features of Hypohidrotic Hereditary ED i.e, hypodontia, hypohidrosis and hypotrichosis.