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Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited blistering disease caused by the absence of type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening RDEB subjects to determine additional characteristics of patients who survive to adulthood.
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Inclusion Criteria:1. Clinical diagnosis of RDEB by local dermatologist. 2. 18 years of age or more and willing to give consent. Exclusion Criteria:1. Medical instability limiting ability to travel to Stanford University Medical Center.
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Adults (18 years of age or older) with RDEB diagnosis by a local dermatologist, who can travel to Stanford University Medical Center.
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| Name | Affiliation | Role |
|---|---|---|
| Alfred T Lane | Stanford University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford University School of Medicine | Stanford | California | 94305 | United States |
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| ID | Term |
|---|---|
| D016108 | Epidermolysis Bullosa Dystrophica |
| ID | Term |
|---|---|
| D004820 | Epidermolysis Bullosa |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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Skin biopsies, serum
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |
| D012872 | Skin Diseases, Vesiculobullous |