The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked pilocarpine iontophoresis and collection system. The technologies for both imaging of sweat ducts and the measurement of maximal sweat rate have been used safely and without adverse events in our prior studies involving HED/XLHED subjects. Furthermore, this study will assess the feasibility of developing a non-invasive screening tool that will enable detection of clinical signs of XLHED based on an analysis of a two dimensional frontal photograph.
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Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs
Timeframe: Study day 1 - Day of study conduct
Assess the feasibility of developing a non-invasive newborn screening tool, which will enable detection of clinical symptoms of HED/XLHED at birth, based on an analysis of a two dimensional photograph
Timeframe: Study day 1 - Day of study conduct