Anhidrotic ectodermal dysplasia in an adolescent boy: Case report and review of literature

Abstract

Ectodermal dysplasia is a rare genetic disorder due to defects in structures derived from ectoderm. It occurs due to mutation in genes that encode proteins involved in the development of ectodermal structures. Males show full expression of the disorder, whereas females show minimal signs of disorder because of the usual X-linked recessive pattern of inheritance. Common defects include hypodontia, onychodysplasia, hypotrichosis, and reduced or absence of sweat glands. The incidence of ectodermal dysplasia is seven in 10,000 live births. It is important to prevent hyperpyrexia, a life-threatening complication in hypohidrotic ectodermal dysplasia patients. Here, we are reporting a rare case of anhidrotic ectodermal dysplasia in a 16-year-old male patient with a positive family history of the same condition.