Epidermolysis Bullosa
Conditions
Keywords
dermatologic disorders, epidermolysis bullosa, genetic diseases and dysmorphic syndromes, rare disease
Brief summary
OBJECTIVES: I. Develop a large roster of well-characterized patients with various forms of inherited and acquired epidermolysis bullosa (EB). II. Generate a large data bank of clinical, historical, and genetic information concerning these patients. III. Accumulate donated tissue specimens, including selected cells and DNA, from selected patient subsets for the establishment of permanent tissue cell banks. IV. Promote and facilitate research in EB.
Detailed description
PROTOCOL OUTLINE: Patients are enrolled by mail or clinic visit at 1 of 4 clinical centers. Clinical, epidemiological, and laboratory data are collected. Medical and family histories are obtained in a detailed interview in person, by phone, or by mail. Diagnostic studies to confirm the type of epidermolysis bullosa are performed as indicated. A pedigree chart is completed on the first affected family member entered. Selected patients are followed at least biannually. A study duration of approximately 10 years is anticipated.
Interventions
None listed
Sponsors
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Rockefeller University
National Center for Research Resources (NCRR)
Study design
Observational model
NATURAL_HISTORY
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Clinical diagnosis of epidermolysis bullosa
Outcome results
None listed