Hypohidrotic Ectodermal Dysplasia: A Case Report

Abstract

Ectodermal dysplasia is a heterogeneous group of inherited disorders that manifests a variety of deformities due to primary defects in the development of two or more tissues derived from embryonic ectoderm involving skin, sweat glands, hair, nails, and teeth. The two most common forms of disease are Hypohidrotic/Anhidrotic Ectodermal Dysplasia and Hidrotic Ectodermal Dysplasia caused by mutation of several genes. Here we present a case of a 4-and-half-year-old male child with Hypohidrotic Ectodermal Dysplasia presented with raised body temperature, heat intolerance, hypodontia, and hypotrichosis. A combined approach with physicians from several fields brought us to a final diagnosis of Ectodermal dysplasia. Proper counseling for parents is essential to ensure timely and comprehensive medical care when needed in the future.