The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the structure of your face compared to faces of people affected by HED; 4) molds of your teeth to see if and how they are different than people affected by HED.
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To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
Timeframe: Day 1 and Day 3-4
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
Timeframe: Day 1
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
Timeframe: Day 1
To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
Timeframe: Day 1
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
Timeframe: Day 1
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
Timeframe: Day 1
To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification
Timeframe: Day 1