Anhidrotic Ectodermal dysplasia : A Case Report

Abstract

Background: In the ectoderm-derived structures, anhidrotic ectodermal dysplasia (EDA) may lead to developmental abnormalities. An additional set of symptoms, including hypotrichosis, hypodontia, and anhidrosis, are also present. The diagnosis of EDA may be validated by genetic testing. The only way to control EDA is to provide parents with knowledge and counseling on how to keep their children safe from overheating. Early detection of EDA is critical so that the patient may get the most effective therapy. Case: Herewith, we report A 6-year-old-girl with suspected EDA and was planned to perform Iodine-starch test. Her parent complained about dry skin, inability to sweat adequately since birth and episodes of fever. Physical examination showed dry skin, frontal bossing, sparse and fine of scalp hair and eyebrows, palmoplantar hyperkeratosis and peg shaped teeth. Genetic testing could not be done because limited of facility. Parents refused biopsy examination and Iodine-starch test revealed anhidrosis as high as the cervical myelum segment 5 and below. Conclusion : Hypotrichosis, hypodontia, and anhidrosis are clinical triad of EDA. Genetic testing should be performed to establish a definitive diagnosis of EDA. If genetic testing facility not available, additional examination such as biopsy and Iodine test can be performed to support the diagnosis of EDA.