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Hypohidrotic ectodermal dysplasia (HED) is an inherited disorder characterized by fine, sparse hair; pointed teeth; and decreased or absent eccrine function. The inability to sweat can lead to life-threatening hyperthermia, especially during infancy. This predominantly X-linked disorder affects the ectodysplasin signal transduction pathway. A newly identified condition that combines HED manifestations with immune defects has been associated with a mutation in NEMO, the gene responsible for incontinentia pigmenti. Authors of this study assessed the value of four hair and sweat gland tests in the diagnosis of HED.
During the 20th Annual Family Conference of the National Foundation for Ectodermal Dysplasia (http://www.nfed.org), volunteer subje…