Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
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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.
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls [ Time Frame: Day 1 and Day 3-4 ]
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls [ Time Frame: Day 1 ]
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls [ Time Frame: 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) [ Time Frame: Day 1 ]
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls) [ Time Frame: Day 1 ]
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls [ Time Frame: 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 [ Time Frame: Day 1 ]
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Layout table for eligibility information
Ages Eligible for Study:
14 Years to 29 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
HED Affected Members of the UCSF Craniofacial Clinic, HED Affected Members of the National Foundation for Ectodermal Dysplasia
Males age 14-29 years with clinical diagnosis of HED
No scalp shaving in the 6 months prior to enrollment
No current medical therapy for hair loss
Written informed consent for study and genotyping (or signed medical release of previous genetic test results)
Medically significant condition as determined by the PI
Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine)