Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Summary

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.

Detailed Description

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.

Eligibility Criteria