Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by genetic mutations in the gene for type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with RDEB to evaluate characteristics of the subjects and their cells in order to develop new strategies of therapy and determine whether subjects could be candidates for treatment studies.

We will obtain a detailed medical history and will perform a skin examination and brief physical exam. Photographs may be taken. We will ask questions about the size and duration wounds.

LAB TESTS We will draw blood to determine overall health status to include Hepatitis B, Hepatitis C, and Human Immunodeficiency Virus (HIV) testing. Genetic testing may also be performed.

BIOPSIES Biopsies may be collected to check for Collagen 7 and for antibodies to Collagen 7.

Based on the results obtained, it may be possible to identify patients who would qualify to participate in current or future clinical trials.

Inclusion Criteria:

• Clinical diagnosis of RDEB by local dermatologist
• 7 years of age or older

Exclusion Criteria:

-Medical instability limiting ability to travel to Stanford University Medical Center