Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| HED Affected Males | |||
| Male Controls |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls | Day 1 and Day 3-4 | |
| To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls | Day 1 | |
| To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls | 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) | Day 1 | |
| To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls) | Day 1 | |
| To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls | 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 | Day 1 |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
HED Affected Members of the UCSF Craniofacial Clinic, HED Affected Members of the National Foundation for Ectodermal Dysplasia
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Ophir Klein, MD, PhD | University of California, San Francisco | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California | San Francisco | California | 94143 | United States |
Not provided
| ID | Term |
|---|---|
| D053358 | Ectodermal Dysplasia 1, Anhidrotic |
| ID | Term |
|---|---|
| D004476 | Ectodermal Dysplasia |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
Whole blood, serum
| D012868 | Skin Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D012873 | Skin Diseases, Genetic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |